NEUROLOGIC

NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ?MIRROR MOVEMENTS 3, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, CULLER-JONES SYNDROME, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ZIMMERMANN-LABAND SYNDROME 2, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPINOCEREBELLAR ATAXIA 14, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, DYSTONIA-11, MYOCLONIC, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, NEUROFIBROMATOSIS, FAMILIAL SPINAL, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, SPINOCEREBELLAR ATAXIA 21, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, PERRY SYNDROME, SPINOCEREBELLAR ATAXIA 15, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CAPOS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, PITUITARY DEPENDENT HYPERCORTISOLISM, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ?SPINOCEREBELLAR ATAXIA 41, NEPHROTIC SYNDROME, TYPE 8, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, DYSTONIA-12, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, RABSON-MENDENHALL SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HYPOMAGNESEMIA 2, RENAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, EIKEN SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, BARTTER SYNDROME, TYPE 4B, DIGENIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, NOONAN SYNDROME 9, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUROFIBROMATOSIS, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, NEUROFIBROMATOSIS-NOONAN SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, DIABETES INSIPIDUS, NEPHROGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ATAXIA-OCULOMOTOR APRAXIA 3, DEJERINE-SOTTAS DISEASE, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CA2, MPDZ, F2, FGFR1, GNAS, AP2S1, CAV1, ATP6V1B2, AGT, MYO5A, EGR2, NF1, RAB7A, DNM2, PIK3CA, WNK1, ARHGDIA, SLC4A4, DRD2, IGF1, CREBBP, GNAI2, DYNC2H1, PDGFRB, DNM1, KRAS, TRPC3, NPPA, ADCY6, AR, MTOR, EDNRA, ATP1A2, CBL, KCNJ1, PTH, KLC2, AVPR2, TCIRG1, ITPR1, SLC4A1, ATP6V0A2, HCFC1, BDNF, GLUD1, INS, SOS2, HSD17B10, GDNF, PTH1R, SYN1, PCK1, AKT1, KCNMA1, VDR, TP53, ATP5A1, DCTN1, A2M, AQP2, BSND, PRKCG, GLI2, PIK3R5, CLCNKB, DYNC1H1, SCYL1, GNAQ, NGF, GNAO1, PIK3R2, TGFB1, DNAL4, ATM, RPS6KA3, PLCB1, WAS, PRKACA, INSR, SOS1, GLUD2, PCNA, ATP1A3, APP, HRAS, FXYD2, VPS45, NR3C1, ESR1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, FOCAL DERMAL HYPOPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, VACTERL ASSOCIATION, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, GILLESPIE SYNDROME, DEJERINE-SOTTAS DISEASE, PITT-HOPKINS SYNDROME, TRIGONOCEPHALY 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SADDAN, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, OSTEOGENESIS IMPERFECTA, TYPE III, HOLOPROSENCEPHALY-3, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, CRANIOFRONTONASAL DYSPLASIA, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, SHORT SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?TETRA-AMELIA SYNDROME, WAARDENBURG SYNDROME, TYPE 3, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, HYPOCHONDROPLASIA, ROBINOW SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, CRANIOSYNOSTOSIS, TYPE 1, ULNAR-MAMMARY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 30/47, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, HETEROTOPIA, PERIVENTRICULAR, PALLISTER-HALL SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

DNMT1, HESX1, PORCN, CAV1, WNT5A, APP, SMARCA4, ERBB3, FGFR2, MAP2K2, LHX3, SMAD4, PTEN, PAK3, NR3C1, DVL3, BRCA1, PIK3R2, PIK3CA, SMAD9, TWIST1, NOTCH1, FLNA, JAK3, TBP, CCND1, TBX3, KAT6A, GDNF, MTOR, FGFR1, TCF4, MEF2C, NRAS, SOX2, OTX2, EGR2, PAX2, AKT2, WNT7A, AKT1, CREBBP, NGF, VDR, ESR1, KMT2A, PAFAH1B1, IHH, AKT3, IGF1R, HOXB1, LIFR, RUNX2, WNT1, ROR2, ZIC3, PAX3, PAX6, TGFBR1, GSC, GLI3, TP53, THRB, HRAS, COL1A2, BMP4, T, KRAS, EFNB1, IGF1, MUSK, FGFR3, NKX2-5, PIK3R5, ACVR1, SHH, ALX4, JAK2, CTNNB1, EZH2, SF3B4, PDGFRB, PIK3R1, WNT3

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, CULLER-JONES SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, HOLOPROSENCEPHALY 11, HOLOPROSENCEPHALY-9, HOLOPROSENCEPHALY-3, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ALZHEIMER DISEASE-2, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MICROPHTHALMIA, SYNDROMIC 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, BANNAYAN-RILEY-RUVALCABA SYNDROME, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HOLOPROSENCEPHALY-7, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?TETRA-AMELIA SYNDROME, POLYCYSTIC LIVER DISEASE, HOLOPROSENCEPHALY-5, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, CARPENTER SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, PROTEUS SYNDROME, SOMATIC

PTCH1, APOE, LRP5, KCNMA1, RAB23, WNT7A, SUFU, PTEN, ZIC2, WNT3, GAS1, PRKACA, OTX2, CSNK1D, PTCH2, CTNNB1, WNT5A, CCND1, BMP4, WNT1, IHH, GLI3, AKT1, ROR2, LRP2, GSC, CDON, RUNX2, PORCN, GLI2, SHH

N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ?INFANTILE LIVER FAILURE SYNDROME 1, COLE-CARPENTER SYNDROME 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, GLUTAMINE DEFICIENCY, CONGENITAL, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, HYPERPROLINEMIA, TYPE II, CUTIS LAXA, AUTOSOMAL DOMINANT 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, AMINOACYLASE 1 DEFICIENCY, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, HYPEROXALURIA, PRIMARY, TYPE 1, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, ALCOHOL DEPENDENCE, HYPERPROLINEMIA, TYPE I, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, BRUNNER SYNDROME, HYPOBETALIPOPROTEINEMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, BECKER MUSCULAR DYSTROPHY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, CITRULLINEMIA, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, ARGININOSUCCINIC ACIDURIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EPILEPSY, PYRIDOXINE-DEPENDENT, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 10, ARGININEMIA, SJOGREN-LARSSON SYNDROME, CHOROID PLEXUS PAPILLOMA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

OTC, ALDH4A1, DAO, APOB, TP53, QARS, NAGS, ASL, P4HB, NOS3, ALDH7A1, GLUL, DMD, VHL, ALDH3A2, PYCR2, PRODH, HIBCH, ACY1, ALDH2, GFPT1, PYCR1, GATM, SMS, GLUD2, VCP, ASS1, AGXT, MAOA, CYC1, ALDH18A1, GLUD1, CPS1, LARS, GAMT, ARG1

BARAITSER-WINTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CORTICAL MALFORMATIONS, OCCIPITAL, OTOPALATODIGITAL SYNDROME, TYPE II, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, SPINOCEREBELLAR ATAXIA 14, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, GILLESPIE SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CLEFT PALATE, ISOLATED, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ADAMS-OLIVER SYNDROME 5, PIERSON SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, LARSEN SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PARKINSON DISEASE 1, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, NOONAN SYNDROME 9, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, NEPHROTIC SYNDROME, TYPE 8, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RABSON-MENDENHALL SYNDROME, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYOPATHY, MYOFIBRILLAR, 5, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PELGER-HUET ANOMALY, MENTAL RETARDATION, X-LINKED 46, ?BARDET-BIEDL SYNDROME 11, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SED CONGENITA, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 12, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, METHYLMALONIC ACIDURIA, MUT(0) TYPE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, OPITZ GBBB SYNDROME, TYPE I, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SMED STRUDWICK TYPE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PORENCEPHALY 2, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MACROCEPHALY/AUTISM SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, HETEROTOPIA, PERIVENTRICULAR, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CAV1, COL1A1, MID1, ACTB, LBR, IGBP1, COL1A2, F2, AGT, LAMC3, COL11A2, COL5A1, ITGA2B, DDR2, SOX10, PLG, ITGA3, SPTAN1, LAMB2, TRIM32, PIK3CA, SERPINH1, TGFBR2, ARHGDIA, PDGFRB, COL2A1, CTNNB1, PTEN, ACE, TPM1, PAX6, COL6A2, IGF2, NOS3, DAG1, COL6A1, TNF, MTOR, LAMA1, MEF2C, AKT2, CBL, COL18A1, CCND1, COMP, SPARC, RELN, PDGFRA, TGFBR1, TAF1, ARHGEF6, TNNT2, BRAF, INS, SOS2, APP, ITGB3, GJA1, SOX9, IGF1, CDK5, DMD, VHL, COL4A1, GRIN2B, LAMA4, CCND2, PRKDC, IGF1R, MUT, TP53, A2M, AKT1, SNCA, PRKCG, EFNB1, MUSK, PIK3R5, COL6A3, LAMB1, FLNA, MYH11, BIN1, TUBG1, ACTG1, LAMA2, TGFB1, PIK3R2, COL5A2, ESR1, VPS11, INSR, NOTCH1, AKT3, PDGFB, SOS1, DIAPH1, PAK3, COL4A2, FLNC, MTRR, HRAS, LRP2, ITGA7, HTRA1, ALB, HSPG2, NEB, PIK3R1, FLNB, SHH

LYSYL HYDROXYLASE 3 DEFICIENCY, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE III, CORTICAL MALFORMATIONS, OCCIPITAL, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INCONTINENTIA PIGMENTI, HOLOPROSENCEPHALY-3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ERYTHROCYTOSIS, FAMILIAL, 2, FEINGOLD SYNDROME, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, SMITH-KINGSMORE SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PORENCEPHALY 2, GLANZMANN THROMBASTHENIA, MYHRE SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, SED CONGENITA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, PORETTI-BOLTSHAUSER SYNDROME, MACROCEPHALY/AUTISM SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, LISSENCEPHALY 5, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PORENCEPHALY 1, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHOROID PLEXUS PAPILLOMA, ATAXIA-OCULOMOTOR APRAXIA 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PIERSON SYNDROME, KABUKI SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, KNOBLOCH SYNDROME 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

DNMT1, TUBG1, LAMB1, SHH, LAMA1, CTNNB1, SMAD4, CREBBP, LAMA2, IKBKG, PIK3R2, COL1A2, MYCN, ITGA2B, KMT2D, ITGB3, DAG1, TNF, TGFB1, MTOR, VHL, COL4A1, AKT3, LAMA4, PRKDC, PLOD3, AKT2, CCND1, TP53, ITGA3, COL4A2, PCNA, LAMB2, COL18A1, PIK3CA, HSPD1, AKT1, HRAS, MAX, PTEN, CDK6, PIK3R5, ESR1, MYD88, RARB, COL2A1, PLG, LAMC3, PIK3R1

GALACTOSE EPIMERASE DEFICIENCY, ?ACAT2 DEFICIENCY, VLCAD DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, MENTAL RETARDATION, X-LINKED 72, ?WAISMAN SYNDROME, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, PEROXISOME BIOGENESIS DISORDER 2B, CPT DEFICIENCY, HEPATIC, TYPE II, SHORT SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ALCOHOL DEPENDENCE, GLUTARICACIDURIA, TYPE I, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LATHOSTEROLOSIS, ALPHA-METHYLACETOACETIC ACIDURIA, 2-METHYLBUTYRYLGLYCINURIA, EPILEPSY, PYRIDOXINE-DEPENDENT, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, MENTAL RETARDATION, X-LINKED 63, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

TUBA8, PEX14, ECHS1, CTNNB1, CPT2, ACADS, ACAT2, CPT1C, ALDH7A1, SC5D, ALDH2, ACAT1, RAB39B, ALDH3A2, HADHA, GALE, HADHB, HADH, CPT1A, ADH1B, PEX19, ADH1C, GCDH, ACSL4, ACADSB, PEX5, ACADM, ACADVL, PEX7, ACOX1, TUFM, CTSD, PIK3R1

?DYSTONIA 23, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CAMURATI-ENGELMANN DISEASE, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, CARDIOFACIOCUTANEOUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, EPISODIC ATAXIA, TYPE 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, STORMORKEN SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, PSEUDOHYPOPARATHYROIDISM IC, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, SPINOCEREBELLAR ATAXIA 15, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, ANGELMAN SYNDROME, ?SPINOCEREBELLAR ATAXIA 41, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, TUBULAR AGGREGATE, 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SPINOCEREBELLAR ATAXIA 6, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {BLEPHAROSPASM, PRIMARY BENIGN}, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, TIMOTHY SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, GLYCOGEN STORAGE DISEASE IXC, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, DUCHENNE MUSCULAR DYSTROPHY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ALCOHOL DEPENDENCE, IMMUNODEFICIENCY 8, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, POLYCYTHEMIA VERA, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, THYROTROPIN-RELEASING HORMONE DEFICIENCY, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, BECKER MUSCULAR DYSTROPHY, MIRROR MOVEMENTS 1, DARIER DISEASE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PARKINSON DISEASE 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DIABETES INSIPIDUS, NEPHROGENIC, NOONAN SYNDROME 7, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPINOCEREBELLAR ATAXIA 42, LEOPARD SYNDROME 3, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, PDE4D, F2, APP, ATP2B3, TPM1, GNAS, MYD88, AGT, HAX1, CDK5, PRKAR1A, RYR2, B2M, DES, CACNA1B, BMP4, PDGFRB, ADCY6, GNAI2, GNAQ, ERBB3, PHKA2, AR, NOS3, TNF, CORO1A, EDNRA, MEF2C, ATP1A2, CBL, ORAI1, CCND1, JAK2, PDE3A, AVPR2, TUBG1, ITPR1, CACNA1A, CASR, RYR1, TNNT2, HTR2A, BRAF, INS, STIM1, EEF1A2, CACNA1G, CTNNB1, SYN1, DMD, GNA11, MTOR, AKT1, AKAP9, VDR, TRPC3, UBE3A, SLC25A4, CHRNA4, CCL2, SNCA, PRKCG, TUBB3, ERBB4, APOA1, GRIN2A, EIF2B1, PHKG2, ATM, GNAL, TGFB1, PLCB1, NEB, PRKACA, CACNA1C, SOS1, DRD5, PDGFRA, CACNA1S, TRH, GRIN2B, GRM1, HRAS, DCC, ATP2A2, ANK2, CACNA1D, PIK3R1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, SUPRANUCLEAR PALSY, PROGRESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DYSTONIA-11, MYOCLONIC, CARASIL SYNDROME, CAMURATI-ENGELMANN DISEASE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, LEUKODYSTROPHY, HYPOMYELINATING, 11, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, BOHRING-OPITZ SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, SPINOCEREBELLAR ATAXIA 15, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MYOPATHY, MYOFIBRILLAR, 5, PSEUDOHYPOPARATHYROIDISM IA, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, CULLER-JONES SYNDROME, PELGER-HUET ANOMALY, TIMOTHY SYNDROME, NOONAN SYNDROME 4, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MUENKE SYNDROME, MYOPATHY, MYOFIBRILLAR, 4, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, FRONTONASAL DYSPLASIA 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, DEAFNESS, X-LINKED 5, SED, MAROTEAUX TYPE, LATERAL MENINGOCELE SYNDROME, CORTICAL MALFORMATIONS, OCCIPITAL, CRANIOSYNOSTOSIS, TYPE 2, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, OSTEOGENESIS IMPERFECTA, TYPE XVII, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, CROUZON SYNDROME, DYSAUTONOMIA, FAMILIAL, OSTEOGENESIS IMPERFECTA, TYPE XV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, HOLOPROSENCEPHALY-5, BRACHYOLMIA TYPE 3, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, VACTERL ASSOCIATION, X-LINKED, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ?OTOFACIOCERVICAL SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, CLEFT PALATE, ISOLATED, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, DYSTONIA 27, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, ?SPINOCEREBELLAR ATAXIA 41, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, FRAXE, OPSISMODYSPLASIA, RABSON-MENDENHALL SYNDROME, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ADAMS-OLIVER SYNDROME 5, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PICK DISEASE, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, NOONAN SYNDROME 10, ALAGILLE SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, BECKER MUSCULAR DYSTROPHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPOCHONDROPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, SPINOCEREBELLAR ATAXIA 17, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKODYSTROPHY, HYPOMYELINATING, 9, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ULNAR-MAMMARY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MENTAL RETARDATION, X-LINKED 46, TUMOR PREDISPOSITION SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PARIETAL FORAMINA 1, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1, MOYAMOYA 6 WITH ACHALASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, PSEUDOACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, PORETTI-BOLTSHAUSER SYNDROME, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, DEJERINE-SOTTAS DISEASE, LOEYS-DIETZ SYNDROME 2, ALZHEIMER DISEASE, TYPE 4, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), OSTEOGENESIS IMPERFECTA, TYPE III, HOLOPROSENCEPHALY-3, OPITZ GBBB SYNDROME, TYPE I, MECKEL SYNDROME 10, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARKINSON DISEASE 1, FRONTOMETAPHYSEAL DYSPLASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 3, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GRISCELLI SYNDROME, TYPE 1, OCULOECTODERMAL SYNDROME, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALCOHOL DEPENDENCE, IMMUNODEFICIENCY 8, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, DISTAL, 4, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, PORENCEPHALY 2, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SPINOCEREBELLAR ATAXIA 12, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, GLUCOCORTICOID RESISTANCE, COLE-CARPENTER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, TRANSALDOLASE DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, TRIGONOCEPHALY 1, PITT-HOPKINS SYNDROME, THYROID HORMONE RESISTANCE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, PIERSON SYNDROME, HUNTINGTON DISEASE, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, OCULODENTODIGITAL DYSPLASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, CATSHL SYNDROME, URBACH-WIETHE DISEASE, COWCHOCK SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, WAARDENBURG SYNDROME, TYPE 3, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, ?BARDET-BIEDL SYNDROME 11, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ALZHEIMER DISEASE-2, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SED CONGENITA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, PARASTREMMATIC DWARFISM, PCWH SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, HYPOPHOSPHATASIA, CHILDHOOD, CRANIOSYNOSTOSIS, TYPE 1, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME

CALM1, CA2, MPDZ, TRIM32, CAV1, GJB1, EDNRA, PAFAH1B1, APOE, COL1A1, MAP2K2, PRPH, MEF2C, ACTB, GNA11, LBR, IGBP1, IKBKG, PIK3CA, GNAI2, SMARCA4, ITGB3, TBX3, AGT, A2M, COL11A2, CTNNB1, COL5A1, SOX2, OTX2, KDM1A, SNCA, ALB, CDC6, MYH14, SOX10, HNRNPK, PLAU, GLI2, GUCY1A3, COL6A3, CDKN2A, ENG, P4HB, EGR2, ITGA3, ERBB4, RAB7A, IKBKAP, TGFB2, SPTAN1, LAMB2, TH, DNM2, CACNA1B, SERPINH1, NOTCH1, BMP4, PRKCH, JAG1, HTR2A, EMD, TGFBR2, DRD2, SMAD4, ADCY6, ARHGDIA, ECM1, COL2A1, COMP, HTR1A, THRB, SF3B4, LDB3, KMT2A, ACTA1, SOX9, TPM1, PPP2R5D, TRPV4, KRAS, LAMA4, ERBB3, TUBB2B, TUBA1A, LHX3, ATXN1, NKX2-5, CREBBP, AR, IGF2, GNAS, PIK3R2, NRAS, MYCN, ERCC3, DAG1, KAT6A, GDNF, MYD88, MTOR, FGFR1, MID1, MMP13, SQSTM1, LAMA1, PSEN1, AKT2, BAP1, CBL, PAK3, MSX2, TALDO1, AIFM1, NPPA, B9D2, PLOD3, LYZ, CCND1, PTH, GNAQ, JAK2, SPARC, LRP5, HTT, RELN, WNT3, PDGFRA, TGFBR1, ITPR1, TAF1, GLI3, NR2F1, ROR2, MAX, ALPL, T, ACTA2, PPP2R2B, GSC, PCBD1, ZIC3, CLDN16, RPS6KA3, WAS, DDR2, ADCY5, ALX4, INS, TRPC3, SNAP25, EZH2, BIN1, MYO5A, SOS2, TUBA8, SALL1, POLR1C, KCNJ11, SHH, GJA1, WNT7A, KCNMA1, EP300, IGF1, NLGN3, CDK5, DVL3, F13A1, ZIC2, SMAD9, GRM1, PAX2, INSR, RAPSN, FLNA, CASR, DMD, VHL, COL4A1, ACVR1, PPP2R1A, GRIN2B, TUBB, GDF5, COL6A1, ARHGEF6, BRCA1, VPS11, AKT1, CCND2, DYRK1A, TUBB2A, VDR, FLNB, WNT5A, PLK4, IGF1R, COL18A1, HOXB1, DIAPH1, MYH2, FBN1, PAX6, IHH, TWIST1, LAMC3, CCL2, CSNK1D, PEX13, HAX1, TRPM7, NOTCH3, PRKCG, EFNB1, TUBB3, PTEN, FGFR3, MUSK, PIK3R5, TNNT2, SNAP29, NAA10, BTK, TUBB4A, PLG, RUNX2, EYA1, JUP, PRKDC, HESX1, COL6A2, DLG3, CORO1A, HTRA1, NGF, PTS, TUBG1, PAX3, INPPL1, ACTG1, ATR, ASXL1, FLNC, MYH3, TGFB1, STXBP1, PTPN11, ATM, JAK3, ITGA2B, TBP, DRD3, WNT1, RARS, PLCB1, NEB, PRKACA, PCNA, CACNA1C, NOG, TCF4, COL5A2, AKT3, SOS1, TUBA4A, TP53, PDGFRB, DNMT1, FGFR2, BRAF, LZTR1, PIK3R1, LIFR, MUT, GATA6, COL4A2, L1CAM, HCFC1, SERPINA1, F2, APP, RET, CTCF, JAM3, HRAS, LAMA2, COL1A2, LRP2, ITGA7, MAPT, NOS3, CNBP, LAMB1, OCLN, MYH11, NR3C1, HSPG2, TNF, ESR1, ATIC, ACE, SCRIB, MTRR, PORCN, CASK, PDGFB

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?INFANTILE LIVER FAILURE SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, GLYCINE ENCEPHALOPATHY, USHER SYNDROME TYPE 3B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 9, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, MYHRE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, LEUKODYSTROPHY, HYPOMYELINATING, 3, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

QARS, CARS2, KRT8, AIMP1, LARS, SMAD4, DARS2, DARS, IARS2, CAD, RARS, NARS2, GLDC, GARS, AARS, MARS, CPS1, EARS2, VARS2, KARS, YARS, SEPSECS, MARS2, TARS2, HARS, HSPD1, POLG, RARS2, SARS2, FARS2, MTFMT, AARS2

ADAMS-OLIVER SYNDROME 5, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, NOONAN SYNDROME 7, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ATAXIA-OCULOMOTOR APRAXIA 3, CAMURATI-ENGELMANN DISEASE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, HOLOPROSENCEPHALY-3, OCULOECTODERMAL SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, SHORT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, HYPOCHONDROPLASIA, AMYOTROPHIC LATERAL SCLEROSIS 19, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CATSHL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLOVE SYNDROME, SOMATIC, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CROUZON SYNDROME, MACROCEPHALY/AUTISM SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MUENKE SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEOPARD SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NEUROCUTANEOUS MELANOSIS, SOMATIC, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, TRIGONOCEPHALY 1, RABSON-MENDENHALL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ACHONDROPLASIA, SPINOCEREBELLAR ATAXIA 27, CLEFT PALATE, ISOLATED, SADDAN, CHOROID PLEXUS PAPILLOMA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, NRAS, FGF14, SHH, KRAS, SOX9, MAP2K2, IGF1, CDK6, TGFB1, PIK3R2, NOTCH1, CDKN2A, LEP, TNF, MTOR, FGFR1, INSR, PAX2, NOS3, AKT3, AKT1, CCND2, TP53, CCND1, FGFR2, AKT2, IGF1R, FGF20, FGF3, PDGFRA, PCNA, PIK3CA, PTEN, HRAS, FGF17, BMP4, PDGFRB, FGFR3, PIK3R5, ESR1, DUSP6, PDGFB, BRAF, ERBB4, PIK3R1

BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ?LICHTENSTEIN-KNORR SYNDROME, FRASER SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OTOPALATODIGITAL SYNDROME, TYPE II, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NIJMEGEN BREAKAGE SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, MELNICK-NEEDLES SYNDROME, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, HOLOPROSENCEPHALY-7, SPINOCEREBELLAR ATAXIA 14, MYOTUBULAR MYOPATHY, X-LINKED, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], CAMURATI-ENGELMANN DISEASE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, LEOPARD SYNDROME 3, FRONTOTEMPORAL DEMENTIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ALZHEIMER DISEASE, TYPE 4, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, LARSEN SYNDROME, SPINOCEREBELLAR ATAXIA 15, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, CAPOS SYNDROME, RUBINSTEIN-TAYBI SYNDROME, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CRANIOFRONTONASAL DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, ANGELMAN SYNDROME, ?SPINOCEREBELLAR ATAXIA 41, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, RABSON-MENDENHALL SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {BLEPHAROSPASM, PRIMARY BENIGN}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, HYPOMAGNESEMIA 2, RENAL, PARKINSON DISEASE 4, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, PALLISTER-HALL SYNDROME, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DYSTONIA-12, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, SPINOCEREBELLAR ATAXIA 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ALAGILLE SYNDROME, CLOVE SYNDROME, SOMATIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DARIER DISEASE, MYOPATHY, TUBULAR AGGREGATE, 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPERTHYROIDISM, NONAUTOIMMUNE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ENCEPHALOPATHY, NEONATAL SEVERE, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 17, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LEBER CONGENITAL AMAUROSIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, NOONAN SYNDROME 7, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, ATAXIA-OCULOMOTOR APRAXIA 3, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, HETEROTOPIA, PERIVENTRICULAR, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PEROXISOME BIOGENESIS DISORDER 2B, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, PDE4D, F2, DRD4, ATP2B3, ACOX1, TPM1, GNAS, PSEN1, AGT, HAX1, ATP1A2, CDK5, PRKAR1A, SNCA, RYR2, RAB7A, SPTAN1, DNM2, PIK3CA, NBN, JAG1, CREBBP, GHSR, GNAI2, PCNA, SOX9, GRIP1, DRD2, ERBB3, MAP2K2, NPPA, ADCY6, NME1, NOS3, TNF, MTOR, EDNRA, LEP, AKT2, HCN4, ORAI1, CCND1, PTH, PDE3A, EP300, SYN1, TSHR, RYR1, HCFC1, FXYD2, ADCY5, BRAF, INS, SOS2, PTCH1, GRIN2B, GJA1, KCNMA1, ITPR1, IGF1, MECP2, MC2R, FLNA, CASR, PPP2R1A, AKT1, TUBB3, NGF, ATXN1, TRPC3, TP53, ATP1A3, IHH, GLI3, CCL2, CSNK1D, PRKCG, EFNB1, PEX5, PIK3R5, GABRG2, GRIN2A, GUCY2D, TNFSF11, SLC9A1, HTR1A, EIF2B1, PIK3R2, TGFB1, PTPN11, GNAL, TBP, DISC1, ACVR1, PRKACA, CACNA1C, INSR, AKT3, SOS1, DRD5, CACNA1S, BDNF, APP, GRM1, HRAS, ATP2A2, ESR1, PIK3R1, FLNB, CACNA1D, SHH

REVESZ SYNDROME, SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WATSON SYNDROME, CAMURATI-ENGELMANN DISEASE, ?ACAT2 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), SPINOCEREBELLAR ATAXIA 38, GAUCHER DISEASE, PERINATAL LETHAL, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, BJORNSTAD SYNDROME, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, BARTH SYNDROME, SHORT SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ACETYL-COA CARBOXYLASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 6, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, CEROID LIPOFUSCINOSIS, NEURONAL, 1, GLUCOCORTICOID RESISTANCE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, CEROID LIPOFUSCINOSIS NEURONAL 6, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, D-BIFUNCTIONAL PROTEIN DEFICIENCY, HYPERCALCEMIA, INFANTILE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), DARIER DISEASE, FARBER LIPOGRANULOMATOSIS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GLUTAMINE DEFICIENCY, CONGENITAL, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, GAUCHER DISEASE, TYPE IIIC, NEUROFIBROMATOSIS, FAMILIAL SPINAL, CEREBROTENDINOUS XANTHOMATOSIS, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, OROTIC ACIDURIA, LEUKODYSTROPHY, HYPOMYELINATING, 11, HUNTINGTON DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, HMG-COA LYASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, MEND SYNDROME, VLCAD DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, PEROXISOME BIOGENESIS DISORDER 2B, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, CK SYNDROME, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 8, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, ADAMS-OLIVER SYNDROME 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, STRIATONIGRAL DEGENERATION, INFANTILE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, ALPHA-METHYLACETOACETIC ACIDURIA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, KRABBE DISEASE, INCONTINENTIA PIGMENTI, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, EPILEPSY, PYRIDOXINE-DEPENDENT, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, NEUROFIBROMATOSIS, TYPE 1, SMITH-LEMLI-OPITZ SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, FANCONI ANEMIA, COMPLEMENTATION GROUP C, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, PERRAULT SYNDROME 1, CHILD SYNDROME, KAHRIZI SYNDROME, PELGER-HUET ANOMALY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, VITAMIN D-DEPENDENT RICKETS, TYPE I, GM1-GANGLIOSIDOSIS, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE I, OCULOECTODERMAL SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, ATAXIA-TELANGIECTASIA, INFANTILE NEUROAXONAL DYSTROPHY 1, TRIFUNCTIONAL PROTEIN DEFICIENCY, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, ?DYSTONIA, JUVENILE-ONSET, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, SPINOCEREBELLAR ATAXIA 1, ?LAURENCE-MOON SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALCOHOL DEPENDENCE, GLYCEROL KINASE DEFICIENCY, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, CLOVE SYNDROME, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, NIEMANN-PICK DISEASE, TYPE A, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, CONGENITAL, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MARINESCO-SJOGREN SYNDROME, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, GLUTARICACIDURIA, TYPE I, MENTAL RETARDATION, X-LINKED 63, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, PERRAULT SYNDROME 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CORNELIA DE LANGE SYNDROME 5, METACHROMATIC LEUKODYSTROPHY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, {PARKINSON DISEASE 18}, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, D-GLYCERIC ACIDURIA, WILSON-TURNER SYNDROME, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, NEUROFIBROMATOSIS-NOONAN SYNDROME, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, DESMOSTEROLOSIS, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, X-LINKED 72, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CPT DEFICIENCY, HEPATIC, TYPE II, ERYTHROCYTOSIS, FAMILIAL, 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE II, ?SPINOCEREBELLAR ATAXIA 34, {PANIC DISORDER, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), THYROTROPIN-RELEASING HORMONE DEFICIENCY, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, USHER SYNDROME TYPE 3B, LATHOSTEROLOSIS, GAUCHER DISEASE, TYPE II, GM1-GANGLIOSIDOSIS, TYPE III, MYOCLONUS, FAMILIAL CORTICAL, HYPOBETALIPOPROTEINEMIA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MENTAL RETARDATION, X-LINKED 90, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, 2-METHYLBUTYRYLGLYCINURIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CPT II DEFICIENCY, LETHAL NEONATAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SJOGREN-LARSSON SYNDROME, BOUCHER-NEUHAUSER SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, MPDZ, PEX14, FANCM, CAV1, ASAH1, APOB, CDK5, UGT1A1, COL1A1, CPT2, ACADS, ACTB, LBR, CYP27A1, IKBKG, GBA2, ALDOA, AGT, HAX1, ACAT1, RAB39B, PTDSS1, CERS1, CCT5, ALB, NSDHL, PAFAH1B1, GLYCTK, BAAT, HADH, ARSE, PNPLA2, AGK, DES, PIK3CA, UGT1A4, ACSL4, ACADSB, POR, CYP7B1, CPT1A, UMPS, ACOX1, RBPJ, PEX5, NUBPL, VLDLR, TPM1, ACADM, KRAS, APOA1, GK, NPPA, AR, CDK6, NOS3, ALDH7A1, GLUL, PPT1, CAD, SMAD9, MTOR, AMACR, LEP, AKT2, MSMO1, HADHA, SCP2, EIF4G1, ESR1, CBL, NR1I3, PTH, GLA, ADAMTS10, EBP, ELOVL4, HTT, FANCC, TECR, ADH1B, HARS, GCDH, NOL3, TAZ, TSHR, IFNG, ACADVL, CYP24A1, PNPLA6, INS, SLC35A2, ALDH2, TUBA8, APP, GLB1, GJA1, CYP2U1, CTNNB1, NUP62, SMPD1, CBS, CHAT, CYP27B1, SC5D, DLG3, MCPH1, CTSD, VHL, BCS1L, PPP2R1A, ALDH3A2, HMGCL, AKT1, SMARCA4, GALE, HADHB, VDR, ACACA, MRPL3, BRCA1, ATXN1, HINT1, TP53, COQ6, ARSB, ARL6IP1, ACAT2, GALC, TERT, FANCA, OGDH, ARSA, NF1, ECHS1, NEU1, ADH1C, DDOST, RYR2, POLR1C, FAH, SSR4, EIF2B1, SPTLC2, NGF, HSD17B4, HDAC8, HCCS, TUBG1, ATP2A2, EIF2B5, DHCR7, PDSS2, TGFB1, CPT1C, ATM, LMNA, SPTLC1, PEX7, MT-CO2, ETFA, TINF2, TNFSF11, GBA, SRD5A3, GNPAT, GPX4, PCNA, ELOVL5, TRH, PLA2G6, PEX19, HRAS, ACO2, DHCR24, SPTAN1, NR3C1, HSPG2, TNF, CHKB, SIL1, C10orf2, COMT, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, GALACTOSE EPIMERASE DEFICIENCY, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, HMG-COA LYASE DEFICIENCY, ?ACAT2 DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ALCOHOL DEPENDENCE, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, 2-METHYLBUTYRYLGLYCINURIA, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ACETYL-COA CARBOXYLASE DEFICIENCY, TANGIER DISEASE, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ALPHA-METHYLACETOACETIC ACIDURIA, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, EPILEPSY, PYRIDOXINE-DEPENDENT, ISOVALERIC ACIDEMIA, TYROSINEMIA, TYPE II, SJOGREN-LARSSON SYNDROME, CHOROID PLEXUS PAPILLOMA

TUBA8, TAT, ECHS1, HSD17B10, ACADS, ALDH6A1, NOS3, ALDH7A1, PCCB, ACAT1, MT-CO2, ALDH3A2, ABCA1, HIBCH, HMGCL, PCCA, ALDH2, HADHA, CPS1, HADHB, ACACA, GALE, HADH, MUT, TP53, JUP, ACAT2, DBT, MCCC1, ACADSB, OGDH, DLD, MCCC2, IVD, ACADM, BCKDHB, AUH, UMPS, BCKDHA, INS, CTSD, ABAT

SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MULTIPLE SULFATASE DEFICIENCY, GAUCHER DISEASE, PERINATAL LETHAL, CEROID LIPOFUSCINOSIS, NEURONAL, 7, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MICROPHTHALMIA, SYNDROMIC 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEROID LIPOFUSCINOSIS, NEURONAL, 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, MUCOLIPIDOSIS III GAMMA, CEROID LIPOFUSCINOSIS NEURONAL 6, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, EPILEPSY, PROGRESSIVE MYOCLONIC 1A (UNVERRICHT AND LUNDBORG), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS IS, DANON DISEASE, FARBER LIPOGRANULOMATOSIS, PORENCEPHALY 1, CEROID LIPOFUSCINOSIS, NEURONAL, 2, MUCOLIPIDOSIS II ALPHA/BETA, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), SALLA DISEASE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FUCOSIDOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, GAUCHER DISEASE, TYPE IIIC, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, SPINOCEREBELLAR ATAXIA 21, MANNOSIDOSIS, BETA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, NIEMANN-PICK DISEASE TYPE C1, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FEINGOLD SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, GLYCOGEN STORAGE DISEASE II, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CEROID LIPOFUSCINOSIS, NEURONAL, 5, WRINKLY SKIN SYNDROME, MUCOPOLYSACCHARIDOSIS II, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, RHEUMATOID ARTHRITIS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, TUBEROUS SCLEROSIS 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, MUCOLIPIDOSIS III ALPHA/BETA, MUCOLIPIDOSIS IV, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MEDNIK SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, NIEMANN-PICK DISEASE, TYPE A, GM1-GANGLIOSIDOSIS, TYPE I, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CORNELIA DE LANGE SYNDROME 4, ALZHEIMER DISEASE-2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, NIEMANN-PICK DISEASE, TYPE C2, GM2-GANGLIOSIDOSIS, AB VARIANT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MUCOPOLYSACCHARIDOSIS VII, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUCOPOLYSACCHARIDOSIS IH/S, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, PAPILLON-LEFEVRE SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, METACHROMATIC LEUKODYSTROPHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, KRABBE DISEASE, ATYPICAL, KRABBE DISEASE, GALACTOSIALIDOSIS, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, LOEYS-DIETZ SYNDROME 1, ASPARTYLGLUCOSAMINURIA, SIALIC ACID STORAGE DISORDER, INFANTILE, MUCOPOLYSACCHARIDOSIS, MPS-III-A, KANZAKI DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 3, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, DYSTONIA-PARKINSONISM, X-LINKED, {PARKINSON DISEASE 17}, GM1-GANGLIOSIDOSIS, TYPE III, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, MUCOPOLYSACCHARIDOSIS IVA, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, PROTEUS SYNDROME, SOMATIC

CALM1, APOE, FUCA1, NEU1, TPP1, GPI, CLN3, RAD21, ACP2, CIITA, CTSA, ACP5, GUSB, AP4B1, HAX1, SCARB2, VMA21, NPC1, GALC, IDUA, MANBA, SLC17A5, MAN2B1, TGFBR1, GNPTAB, GALNS, BMP4, ATP6V0A2, NME1, IGF2, IDS, MYCN, CTSC, NAGA, ARSA, ASAH1, HEXA, HEXB, CTSF, HGSNAT, IFNG, AP1S2, TCIRG1, TAF1, AP1S1, AP4E1, SUMF1, CLN5, ACVR1, INS, EEF1A2, GLB1, GNPTG, SMPD1, IGF1, MCOLN1, GNS, AGA, CTSD, COL4A1, AKT1, PSAP, MRPL3, NAGLU, ATP5A1, SGSH, ARSB, LAMP2, NPC2, GAA, SCYL1, NGF, AP4S1, NTRK1, AP4M1, ATM, AP3B1, PACS1, PPT1, GBA, GLA, UCHL1, CTNS, VPS35, DNAJC3, GM2A, TUFM, MFSD8, CSTB

REVESZ SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED 63, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, COENZYME Q10 DEFICIENCY, PRIMARY, 6, GLUCOCORTICOID RESISTANCE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, FRONTOTEMPORAL DEMENTIA, BETA-UREIDOPROPIONASE DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, ALZHEIMER DISEASE, TYPE 4, NEU-LAXOVA SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PSEUDOHYPOPARATHYROIDISM IC, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, TYROSINEMIA, TYPE III, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, SMITH-LEMLI-OPITZ SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PSEUDOPSEUDOHYPOPARATHYROIDISM, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, COENZYME Q10 DEFICIENCY, PRIMARY, 7, OCULODENTODIGITAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, LIPOYLTRANSFERASE 1 DEFICIENCY, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, GLYCINE ENCEPHALOPATHY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, ADAMS-OLIVER SYNDROME 3, COFFIN-SIRIS SYNDROME 3, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MALOUF SYNDROME, HARP SYNDROME, RABSON-MENDENHALL SYNDROME, LATHOSTEROLOSIS, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, DIHYDROPYRIMIDINURIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], CRIGLER-NAJJAR SYNDROME, TYPE I, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, COPROPORPHYRIA, HARDEROPORPHYRIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, ALCOHOL DEPENDENCE, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MUCOPOLYSACCHARIDOSIS VII, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CARPAL TUNNEL SYNDROME, FAMILIAL, TANGIER DISEASE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, OGDEN SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MYASTHENIC SYNDROME, CONGENITAL, 16, BIOTINIDASE DEFICIENCY, CARDIOMYOPATHY, DILATED, 1A, LEBER CONGENITAL AMAUROSIS 2, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, HYPERLYSINEMIA, PSEUDOHYPOPARATHYROIDISM IA, PARIETAL FORAMINA 1, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CRANIOSYNOSTOSIS, TYPE 2, CPT DEFICIENCY, HEPATIC, TYPE II, ALEXANDER DISEASE, SACCHAROPINURIA, LEUKODYSTROPHY, HYPOMYELINATING, 9, HYPOPHOSPHATASIA, CHILDHOOD, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, ?MICROPHTHALMIA, SYNDROMIC 1, MOLYBDENUM COFACTOR DEFICIENCY B, CODAS SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, TYROSINEMIA, TYPE II, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

CALM1, UGT1A1, HLCS, SMN2, LMNA, CPT2, ACP2, GNAS, MOCS2, ACP5, GUSB, GFAP, CDK5, HIBCH, PNPO, BTK, RARS, DPYS, FTCD, DES, COQ7, UGT1A4, ACSL4, POR, NAA10, PRKAG2, LIPT1, RBPJ, SOX9, ADH1B, QDPR, IGF2, NOS3, GCH1, LMNB1, EARS2, MAPT, CAD, IKBKG, BTD, NNT, ALAD, ABCA1, MSX2, DMPK, LONP1, NR1I3, ABCB7, SUCLA2, HTT, EP300, HSPD1, DPYD, TNNT2, PANK2, INS, MOCS1, AASS, MT-CO1, CP, TTR, ALPL, GJA1, HMBS, MMAB, HSD17B10, MTHFR, SPR, SC5D, PSEN2, ALDH2, LIAS, PPOX, NDN, AKT1, RPE65, COQ2, MRPL3, NEFL, COX15, HCCS, COASY, PSAT1, UPB1, NT5C2, COQ4, ADH1C, RYR2, TAT, SMARCB1, MTFMT, PTS, NR3C1, DHCR7, MTR, HPD, SPTLC1, FXN, INSR, TPK1, CPOX, AMT, PNP, TUFM, COQ6, GCSH, RDH11, ALB, TNF, ESR1, ATIC, TINF2, DHFR, COX10, CASK, PIK3R1

EXOSTOSES, MULTIPLE, TYPE 1, CAMURATI-ENGELMANN DISEASE, MANNOSIDOSIS, ALPHA-, TYPES I AND II, GAUCHER DISEASE, PERINATAL LETHAL, MANNOSIDOSIS, BETA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, AMISH INFANTILE EPILEPSY SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DESBUQUOIS DYSPLASIA 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, COLE-CARPENTER SYNDROME 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, BARAITSER-WINTER SYNDROME 2, MUCOPOLYSACCHARIDOSIS IS, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, FUCOSIDOSIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, GAUCHER DISEASE, TYPE IIIC, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME 5, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HARTSFIELD SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 11, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, HAJDU-CHENEY SYNDROME, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, SPONDYLOOCULAR SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MUCOPOLYSACCHARIDOSIS II, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, WAARDENBURG SYNDROME, TYPE 4C, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, LYSYL HYDROXYLASE 3 DEFICIENCY, CHIME SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, OSTEOGLOPHONIC DYSPLASIA, KLEEFSTRA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE I, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MUCOPOLYSACCHARIDOSIS VII, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS IH/S, GAUCHER DISEASE, TYPE III, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, TANGIER DISEASE, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, PCWH SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, PETERS-PLUS SYNDROME, ASPARTYLGLUCOSAMINURIA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUCOPOLYSACCHARIDOSIS, MPS-III-A, KANZAKI DISEASE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, ADAMS-OLIVER SYNDROME 4, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, LOEYS-DIETZ SYNDROME 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MUCOPOLYSACCHARIDOSIS IVA, EXOSTOSES, MULTIPLE, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, GAUCHER DISEASE, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, PROTEUS SYNDROME, SOMATIC

UGT1A1, FUCA1, PGAP1, CAV1, PIGV, PLOD3, COL1A1, PIGW, PIGT, HEXB, GBA2, ST3GAL3, HAX1, MGAT2, ALG3, STT3B, SOX10, MANBA, MAN2B1, ALG1, EOGT, NEU1, ALG2, POMGNT1, GALNS, ST3GAL5, ATN1, PIGO, PIGM, PIGG, WWOX, PIGY, TGFB2, KRAS, APOA1, GPC3, P4HB, IDS, NOTCH1, HS6ST1, NAGA, TNF, FGFR1, MOGS, ALG11, STT3A, NR1I3, SGSH, DSE, POMT2, GUSB, ALG6, NDST1, INS, MAN1B1, DPAGT1, GLB1, HEXA, XYLT2, EXT1, CHST14, GNS, B4GALT7, B4GALNT1, AKT1, SDHD, NAGLU, ATXN1, DPM2, PIGN, B3GALT6, DDOST, IDUA, HGSNAT, CHST3, DPM1, CD59, ACTG1, PIGA, PIGL, XYLT1, B3GAT3, B4GALT1, VCP, TGFB1, STX1B, EXT2, POMT1, NOTCH2, TUSC3, SLC33A1, GBA, B3GLCT, GLA, POLR1C, AGA, HRAS, DOLK, DNAJC3, NR3C1, HSPG2, B4GAT1, ALG13, ARSB

CAMURATI-ENGELMANN DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, TRIGONOCEPHALY 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MEIER-GORLIN SYNDROME 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PITUITARY ADENOMA, ACTH-SECRETING, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, NOONAN SYNDROME 9, COFFIN-SIRIS SYNDROME 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PARKINSON DISEASE 4, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, HUNTINGTON DISEASE, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COFFIN-SIRIS SYNDROME 4, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MACROCEPHALY/AUTISM SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, HYPERPARATHYROIDISM, NEONATAL, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, DARIER DISEASE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CORNELIA DE LANGE SYNDROME 1, ATAXIA-TELANGIECTASIA, TUBEROUS SCLEROSIS-1, SPINOCEREBELLAR ATAXIA 17, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, LOEYS-DIETZ SYNDROME 5, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, MYHRE SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, NOONAN SYNDROME 7, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, PARKINSON DISEASE, JUVENILE, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, LEOPARD SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

GRM1, NRAS, PLK4, TGFBR1, TGFB2, APP, NGF, TP53, IL10, HNRNPK, BRAF, MAP2K2, IGF1, PIK3R5, AR, FLNC, PIK3R2, TGFB1, FOXG1, NOTCH1, ATM, SOS2, CCND1, MYO5A, TGFB3, F2, CASR, TNF, PCK1, FGFR1, ESR1, CDK5, GRIN2B, INSR, NOS3, AKT2, MTOR, ALB, AKT1, GNAI2, CCND2, CTNNB1, G6PC3, SHANK3, DNMT1, KMT2A, BRCA1, AKT3, IGF1R, PARK2, RAG1, ICK, HTT, PCNA, RAG2, PAX3, EEF1A2, EP300, TBP, PIK3CA, CDC6, SMARCB1, ITCH, SNCA, PRKAG2, KRAS, PRKACA, CDK6, PTEN, CREBBP, SMAD4, ATP2A2, GSN, AGT, TSC1, HRAS, TGFBR2, GABRG2, PTPN11, INS, SMARCA4, PIK3R1, SOS1

PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), MEVALONIC ACIDURIA, PEROXISOME BIOGENESIS DISORDER 5B, HMG-COA LYASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11B, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), PERRAULT SYNDROME 1, PHYTANIC ACID STORAGE DISEASE, PEROXISOME BIOGENESIS DISORDER 3B, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, HYPER-IGD SYNDROME, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PEROXISOME BIOGENESIS DISORDER 6B, CHILD SYNDROME, CK SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, PEROXISOME BIOGENESIS DISORDER 14B, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 8B, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4B, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, MENTAL RETARDATION, X-LINKED 63, ALAGILLE SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), DYSAUTONOMIA, FAMILIAL, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HEIMLER SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2B, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}

TUBA8, CALM1, PEX1, PEX14, ARL6IP1, DAO, CTNNB1, SOD1, ACOX1, HSD17B4, PEX3, PEX6, PEX12, PEX11B, AGT, HADHB, AMACR, HMGCL, NSDHL, PEX26, MVK, BAAT, PHYH, GNPAT, SCP2, PEX10, ACSL4, MPV17, PEX19, MLYCD, AGXT, ABCD1, PEX16, PEX13, ABCD4, JAG1, PEX5, PEX2, PEX7, IKBKAP, DHFR, FAR1

LOEYS-DIETZ SYNDROME 1, BARAITSER-WINTER SYNDROME 1, LOEYS-DIETZ SYNDROME 5, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EPISODIC ATAXIA, TYPE 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CAMURATI-ENGELMANN DISEASE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MYOPATHY, DISTAL, 4, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, SESAME SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SPINOCEREBELLAR ATAXIA 15, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, OTOPALATODIGITAL SYNDROME, TYPE I, ?DYSTONIA, JUVENILE-ONSET, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, SMED STRUDWICK TYPE, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, MELNICK-NEEDLES SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, SED CONGENITA, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, GLANZMANN THROMBASTHENIA, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 4, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LISSENCEPHALY 5, DEJERINE-SOTTAS DISEASE, ?DYSTONIA 23, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HEART-HAND SYNDROME, SLOVENIAN TYPE, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, RUBINSTEIN-TAYBI SYNDROME 2, FACTOR XIIIA DEFICIENCY, TIMOTHY SYNDROME, DARIER DISEASE, CHOROID PLEXUS PAPILLOMA, MALOUF SYNDROME, BARAITSER-WINTER SYNDROME 2, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, MYOPATHY, MYOFIBRILLAR, 5, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, HETEROTOPIA, PERIVENTRICULAR, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, PROTEUS SYNDROME, SOMATIC

CALM1, ACE, ACTB, ITGB3, MYH11, BIN1, TP53, LMNA, EP300, IGF1, ACTG1, TPM1, FLNC, KCNJ10, TGFB1, LAMA2, MYBPC3, TPM2, TGFB3, TGFB2, SGCA, TNF, DMD, CACNA1C, IGBP1, NOS3, IGF2, AKT1, DST, RYR2, EGR2, ITGA3, CACNB2, CACNA1S, TGFBR1, DES, TTN, CACNA1B, ITPR1, ITGA2B, COL1A2, ITGA7, DAG1, CACNB4, CACNA1D, EMD, FLNA, F13A1, ATP2A2, TNNT2, PRKAG2, COL2A1, LAMB1, TPM3

NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, SENIOR-LOKEN SYNDROME 6, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, SPINOCEREBELLAR ATAXIA 14, DYSTONIA-11, MYOCLONIC, [NOVELTY SEEKING PERSONALITY], ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ?DYSTONIA 23, FRONTOTEMPORAL DEMENTIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, EPISODIC ATAXIA, TYPE 2, TIMOTHY SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, ALZHEIMER DISEASE, TYPE 4, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SPINOCEREBELLAR ATAXIA 15, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, PARKINSONISM-DYSTONIA, INFANTILE, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, FRONTOMETAPHYSEAL DYSPLASIA, BRUNNER SYNDROME, JOUBERT SYNDROME 5, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OPSISMODYSPLASIA, SPINOCEREBELLAR ATAXIA 6, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, KEPPEN-LUBINSKY SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, NOONAN SYNDROME 4, GLYCINE ENCEPHALOPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, ANDERSEN SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, PARKINSON DISEASE 1, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, DIABETES INSIPIDUS, NEPHROGENIC, {PANIC DISORDER, SUSCEPTIBILITY TO}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SPINOCEREBELLAR ATAXIA 12, MECKEL SYNDROME 4, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, HETEROTOPIA, PERIVENTRICULAR, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, DNM1, CEP290, GRIN2B, PPP2R5D, STX1B, NGF, CDK5, GNAO1, GNB4, KCNMA1, KCNJ6, SCN1A, DRD2, DRD3, GLDC, DVL3, GNAS, PSEN1, ATM, CACNA1C, GNAL, DDC, TNF, RYR1, SNCA, EDNRA, GRIP1, KCNJ5, PPP2R1A, SLC6A3, NOS3, AKT2, MTOR, AKT1, AKAP9, CTNNB1, INPPL1, KIF5C, AKT3, DRD5, GNAQ, TP53, KLC2, AVPR2, HCFC1, KIF5A, TH, APP, ITPR1, DRD4, CACNA1B, CACNA1A, SOS1, EP300, GRIN2A, PRKCG, PRKACA, PPP2R2B, IGF1, FLNA, SPTAN1, NR3C1, BDNF, ADCY5, GNAI2, INS, MAOA, PLCB1, CACNA1D, PIK3R1, COMT

?DYSTONIA 23, BARAITSER-WINTER SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, EPISODIC ATAXIA, TYPE 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, OCULODENTODIGITAL DYSPLASIA, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SESAME SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 15, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, OTOPALATODIGITAL SYNDROME, TYPE I, ?DYSTONIA, JUVENILE-ONSET, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DUCHENNE MUSCULAR DYSTROPHY, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, MELNICK-NEEDLES SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, BARAITSER-WINTER SYNDROME 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, GLANZMANN THROMBASTHENIA, DYSTONIA-11, MYOCLONIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LISSENCEPHALY 5, FRONTOTEMPORAL DEMENTIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HEART-HAND SYNDROME, SLOVENIAN TYPE, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, DARIER DISEASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MALOUF SYNDROME, GILLESPIE SYNDROME, ALZHEIMER DISEASE, TYPE 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HETEROTOPIA, PERIVENTRICULAR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, PROTEUS SYNDROME, SOMATIC

CALM1, SOX9, LAMB1, SGCE, EP300, LMNA, PAX6, DES, ACTG1, ACTB, DSG2, SGCA, LAMA2, PSEN1, ITGB3, DAG1, CACNA1D, KCNJ10, CACNA1C, IGBP1, IGF2, AKT1, BIN1, RYR2, DSP, ITGA3, CACNB2, CACNA1S, JUP, GRIN2B, ITPR1, CACNA1B, ITGA2B, GJA1, ITGA7, CACNB4, EMD, FLNA, PCBD1, ATP2A2, ESR1, CTNNB1, DMD

BARAITSER-WINTER SYNDROME 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EPISODIC ATAXIA, TYPE 5, CAMURATI-ENGELMANN DISEASE, AORTIC ANEURYSM, FAMILIAL THORACIC 4, OTOPALATODIGITAL SYNDROME, TYPE II, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MELNICK-NEEDLES SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, BARAITSER-WINTER SYNDROME 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, DEJERINE-SOTTAS DISEASE, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, OSTEOGENESIS IMPERFECTA, TYPE III, SPINOCEREBELLAR ATAXIA 15, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALOUF SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, NOONAN SYNDROME 4, MUSCULAR DYSTROPHY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE I, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SED CONGENITA, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DARIER DISEASE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSTONIA 23, LOEYS-DIETZ SYNDROME 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, SMED STRUDWICK TYPE, GLANZMANN THROMBASTHENIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, FACTOR XIIIA DEFICIENCY, HETEROTOPIA, PERIVENTRICULAR, LOEYS-DIETZ SYNDROME 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

CALM1, ACE, GRIN2B, ITGB3, MYH11, BIN1, LMNA, EP300, IGF1, ACTG1, ADCY6, TPM1, KCNJ10, TGFB1, SGCA, LAMA2, FLNA, TPM2, ITGA2B, TGFB3, TGFB2, DAG1, TNF, DMD, PRKACA, CACNA1C, IGBP1, MYBPC3, IGF2, AKT1, KCNMA1, RYR2, COL2A1, EGR2, ITGA3, CACNB2, CACNA1S, GNAS, TGFBR1, DES, TTN, CACNA1B, ITPR1, SOS1, COL1A2, PDE4D, ITGA7, CACNB4, CACNA1D, EMD, ACTB, AQP2, F13A1, ATP2A2, TNNT2, NEB, ADCY5, GNAI2, PTPN11, LAMB1, TPM3

BARAITSER-WINTER SYNDROME 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, EPISODIC ATAXIA, TYPE 5, AMYOTROPHIC LATERAL SCLEROSIS 20, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BARAITSER-WINTER SYNDROME 2, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ?DYSTONIA 23, FRONTOTEMPORAL DEMENTIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IC, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, COFFIN-LOWRY SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, MOYAMOYA 6 WITH ACHALASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SPINOCEREBELLAR ATAXIA 15, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, IMMUNODEFICIENCY 44, NOONAN SYNDROME 9, COFFIN-SIRIS SYNDROME 3, ?SPINOCEREBELLAR ATAXIA 41, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, KEPPEN-LUBINSKY SYNDROME, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, FUMARASE DEFICIENCY, TIMOTHY SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALCOHOL DEPENDENCE, CLOVE SYNDROME, SOMATIC, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, POLYCYSTIC LIVER DISEASE, MYOPATHY, DISTAL, 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, PICK DISEASE, PARKINSON DISEASE, JUVENILE, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, LOEYS-DIETZ SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TUBA1A, KCNJ5, GRIN2B, DLG3, KCNJ6, GNAQ, TRPC3, MPDZ, MAP2K2, PRKACA, NPPA, EEF2, ACTG1, HTR2A, DRD2, PIK3CA, FLNC, PRKCSH, AKT1, PIK3R2, PSEN1, NRAS, ATM, PPP2R1A, DRD4, SYN1, SMARCB1, CASR, AGT, DMD, EDNRA, MEF2C, CASK, CACNA1C, PDE4D, PRKAR1A, NOS3, MTOR, ADCY5, KRAS, BTK, KCNMA1, RYR2, GUCY1A3, CCND1, PARK2, GNAO1, TP53, FH, CACNA1S, GNAS, NPR2, PRKCG, CACNB2, TGFBR1, ITPR1, ECHS1, KCNJ2, SOS1, HRAS, CACNA1B, BMP4, CACNB4, RPS19, CACNA1D, HNRNPA1, ACTB, SOS2, ADCY6, PIK3R5, RPS6KA3, TNF, PRKAG2, STAT2, PIK3R1, GNAI2, RUNX2, PLCB1, RYR1, ATIC

STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, HYPOMAGNESEMIA 2, RENAL, ATAXIA-TELANGIECTASIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, NOONAN SYNDROME 4, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, SPINOCEREBELLAR ATAXIA 15, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, CAPOS SYNDROME, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPINOCEREBELLAR ATAXIA 14, MYOTUBULAR MYOPATHY, X-LINKED, DYSTONIA-11, MYOCLONIC, EIKEN SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, DYSTONIA-12, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

CALM1, DNM1, APP, GNAQ, NGF, MPDZ, IGF1, AR, GNAS, ATM, PTH1R, AGT, PLCB1, ESR1, PRKACA, ATP1A2, SOS1, KCNMA1, VDR, PTH, AP2S1, RAB7A, BDNF, ATP1A3, DNM2, ITPR1, A2M, PRKCG, DRD2, ADCY6, FXYD2, GNAI2

STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, FRONTOTEMPORAL DEMENTIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ATAXIA-TELANGIECTASIA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, PSEUDOHYPOPARATHYROIDISM IC, SPINOCEREBELLAR ATAXIA 15, FRASER SYNDROME, TIMOTHY SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, MOYAMOYA 6 WITH ACHALASIA, OTOPALATODIGITAL SYNDROME, TYPE II, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, OTOPALATODIGITAL SYNDROME, TYPE I, SPINOCEREBELLAR ATAXIA 14, DONNAI-BARROW SYNDROME, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, FRONTOMETAPHYSEAL DYSPLASIA, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MELNICK-NEEDLES SYNDROME, DYSTONIA-11, MYOCLONIC, [NOVELTY SEEKING PERSONALITY], VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ?ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, HYPOPARATHYROIDISM FAMILIAL ISOLATED, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, ?DYSTONIA 23, PICK DISEASE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, SPINOCEREBELLAR ATAXIA 42, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ALZHEIMER DISEASE, TYPE 4, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, PSEUDOHYPOPARATHYROIDISM IA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HETEROTOPIA, PERIVENTRICULAR, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {BLEPHAROSPASM, PRIMARY BENIGN}, KEPPEN-LUBINSKY SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE

CALM1, SOX9, GRIN2B, GRIP1, CACNA1G, KCNJ6, KCNMA1, GNAO1, GNB4, TH, SMAD4, GRIN2A, PRKACA, NOS1AP, GNAS, NOS3, ATM, PDE4D, FLNA, CASR, RYR1, PLCB1, KCNJ5, CACNA1C, PSEN1, TUBB3, GNAQ, RYR2, GUCY1A3, DRD5, PTH, PER2, SPTAN1, APP, ITPR1, CACNA1B, CSNK1D, PER3, LRP2, SYN1, PRKCG, DRD4, AKAP9, NONO, DRD2, ADCY6, ADCY5, GNAI2, CACNA1D

GLYCINE ENCEPHALOPATHY, OROTIC ACIDURIA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?ACAT2 DEFICIENCY, FUMARASE DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, X-LINKED 41, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PYRUVATE CARBOXYLASE DEFICIENCY, ARTS SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, MIRROR MOVEMENTS 2, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, TRANSALDOLASE DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEPHROTIC SYNDROME, TYPE 8, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, ALPHA-METHYLACETOACETIC ACIDURIA, PARAGANGLIOMAS 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, GLYCOGEN STORAGE DISEASE XII, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, NEU-LAXOVA SYNDROME 2, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, NEU-LAXOVA SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PHOSPHOSERINE PHOSPHATASE DEFICIENCY

TUBA8, GDI1, GPI, ALDOA, SDHA, ECHS1, CTNNB1, ALDOB, ALDH6A1, HK1, SMAD4, ACADS, MTHFR, SDHD, PGK1, PDHA1, RAD51, GPT2, EEF2, CAD, DBT, HADHB, ACAT1, SDHB, GLDC, PCNA, LEP, HIBCH, AGXT, HADHA, SUCLG1, TPI1, ITPA, VCP, MUT, PRPS1, ETFA, FH, SDHC, FBP1, ATP5A1, DLAT, AMT, ACAT2, HSPD1, RPIA, PSAT1, PHGDH, ACO2, GCSH, OGDH, ARHGDIA, GFPT1, ACADM, TALDO1, PSPH, SUCLA2, DLD, UMPS, CPS1, INS, PC, JUP, GCK

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPOMAGNESEMIA 2, RENAL, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EPISODIC ATAXIA, TYPE 5, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, ?LICHTENSTEIN-KNORR SYNDROME, TIMOTHY SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SPINOCEREBELLAR ATAXIA 15, CAPOS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, PROTEUS SYNDROME, SOMATIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, LEBER OPTIC ATROPHY, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DYSTONIA-12, DARIER DISEASE, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

CALM1, COX7B, SLC9A1, MT-CO2, TPM1, TPM2, TPM3, SLC9A6, CACNA1C, ATP1A2, AKT1, UQCRC2, UQCRB, COX6B1, CACNB2, CACNA1S, COX4I2, GRIN2B, ITPR1, MT-CO3, MT-CYB, UQCRQ, CACNB4, CACNA1D, TNNT2, CYB5R3, ATP2A2, CYC1, FXYD2, RYR2, ATP1A3, COX6A1, COX8A, MT-CO1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, DIHYDROPYRIMIDINURIA, GALACTOSE EPIMERASE DEFICIENCY, CYSTATHIONINURIA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MALONYL-COA DECARBOXYLASE DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, GLYCINE ENCEPHALOPATHY, ATAXIA-TELANGIECTASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, TRIFUNCTIONAL PROTEIN DEFICIENCY, ERYTHROCYTOSIS, FAMILIAL, 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ALCOHOL DEPENDENCE, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, NEPHROTIC SYNDROME, TYPE 8, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, NAIL-PATELLA SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, LEOPARD SYNDROME 3, BETA-UREIDOPROPIONASE DEFICIENCY, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), EPILEPSY, PYRIDOXINE-DEPENDENT, GLUTAMINE DEFICIENCY, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, GLUTATHIONE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, LEUKODYSTROPHY, HYPOMYELINATING, 3, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SJOGREN-LARSSON SYNDROME, CHOROID PLEXUS PAPILLOMA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

TUBA8, RRM2B, DAO, ECHS1, ALDH7A1, AIMP1, BAAT, HSD17B10, ALDH6A1, ATM, GLUL, ACADSB, CTH, CAD, ABAT, VHL, UMPS, GLDC, MARS, CLIC2, ALDH3A2, HIBCH, FKBP14, MT-CO2, EIF2B2, ALDH2, HADHA, TP53, GALE, VDR, LMX1B, SMS, GLUD2, VCP, AGXT, DPYS, JUP, SEPSECS, GPX4, MARS2, MLYCD, AKT1, DPYD, MTR, GAD1, ARHGDIA, GFPT1, UPB1, ACADM, GCLC, TNF, GLUD1, GSS, CPS1, BRAF, INS, TUFM, HADHB, NUBPL

STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ATAXIA-TELANGIECTASIA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OCULODENTODIGITAL DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, GLANZMANN THROMBASTHENIA, SPINOCEREBELLAR ATAXIA 14, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TANGIER DISEASE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, PIERSON SYNDROME, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}

ITGB3, HBB, GNAQ, APOA1, NPPA, MYD88, PTPN11, ATM, TNF, PLCB1, SNCA, LAMA4, GJA1, BTK, PRKDC, IL10, IFNG, LAMB2, TUBG1, HRAS, PRKCG, PTEN, ALB, PIK3R1

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, SMED STRUDWICK TYPE, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, C8 DEFICIENCY, TYPE II, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, CARASIL SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, LISSENCEPHALY 5, PORENCEPHALY 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, PIERSON SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PARKINSON DISEASE 1, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, NOONAN SYNDROME 9, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, TUBEROUS SCLEROSIS 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ARGININEMIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, DONNAI-BARROW SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, C8 DEFICIENCY, TYPE I, LOEYS-DIETZ SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, COLE-CARPENTER SYNDROME 1, NOONAN SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SED CONGENITA, CLOVE SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, PCWH SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CORTICAL MALFORMATIONS, OCCIPITAL, PORENCEPHALY 2, GLANZMANN THROMBASTHENIA, OSTEOGENESIS IMPERFECTA, TYPE XVII, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, FACTOR XIIIA DEFICIENCY, ATAXIA-OCULOMOTOR APRAXIA 3, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LOEYS-DIETZ SYNDROME 4, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, TGFBR1, ITGB3, SQSTM1, F13A1, NGF, RAB7A, HSPB1, B2M, PLAU, COL1A1, CD59, COL5A1, COL5A2, GNA11, ARG1, LAMA2, AKT1, TGFB1, PIK3R2, NOS3, ATM, SOS2, HLA-DRB1, TGFB3, TGFB2, DAG1, TNF, COL11A2, LAMA1, P4HB, PRKACA, APP, LEP, SNCA, IGF2, ALB, LAMA4, IFNG, SOX10, SOS1, PRKDC, MAF, IL10, COL2A1, GNAQ, JAK2, GJA1, GNAL, COL4A2, VHL, GNAS, COL4A1, LAMB2, SPARC, TUBG1, PIK3CA, LAMC3, HTRA1, HRAS, COL1A2, LRP2, PRKCG, IGF1, C8A, GNAI2, PIK3R5, HSPG2, DDR2, SHH, C8B, PLG, PROK2, LAMB1, PLCB1, MTOR, PIK3R1

DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, FRASER SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OTOPALATODIGITAL SYNDROME, TYPE II, SENIOR-LOKEN SYNDROME 6, DONNAI-BARROW SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA 14, DYSTONIA-11, MYOCLONIC, [NOVELTY SEEKING PERSONALITY], ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ?DYSTONIA 23, FRONTOTEMPORAL DEMENTIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOPSEUDOHYPOPARATHYROIDISM, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PITUITARY ADENOMA, ACTH-SECRETING, MOYAMOYA 6 WITH ACHALASIA, SPINOCEREBELLAR ATAXIA 15, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, FRONTOMETAPHYSEAL DYSPLASIA, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, JOUBERT SYNDROME 5, COFFIN-SIRIS SYNDROME 3, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {BLEPHAROSPASM, PRIMARY BENIGN}, KEPPEN-LUBINSKY SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, TIMOTHY SYNDROME, ATAXIA-TELANGIECTASIA, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3, MECKEL SYNDROME 4, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, CHOROID PLEXUS PAPILLOMA, SPINOCEREBELLAR ATAXIA 42, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LOEYS-DIETZ SYNDROME 1, HETEROTOPIA, PERIVENTRICULAR, [SHORT SLEEPER], {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1

CALM1, SOX9, KCNJ5, NME1, GNAQ, CACNA1G, KCNJ6, KCNMA1, GNAO1, GNB4, TH, APP, EP300, SMAD4, BHLHE41, ADCY6, NOS1AP, GNAS, NOS3, ATM, PDE4D, GRIP1, CASR, GRIN2B, RYR1, PLCB1, PRKAG2, NR4A2, CACNA1C, PSEN1, FLNA, TUBB3, SMARCB1, RYR2, GUCY1A3, DRD5, PTH, PER2, SPTAN1, CEP290, TGFBR1, ITPR1, CACNA1B, TP53, CSNK1D, PER3, LRP2, GRIN2A, SYN1, PRKCG, PRKACA, DRD4, AKAP9, NONO, DRD2, NR3C1, ESR1, ADCY5, GNAI2, CACNA1D, ATIC

{MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CAMURATI-ENGELMANN DISEASE, OTOPALATODIGITAL SYNDROME, TYPE II, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, SENIOR-LOKEN SYNDROME 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, PARKINSON DISEASE 1, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, DYSTONIA-11, MYOCLONIC, [NOVELTY SEEKING PERSONALITY], LISSENCEPHALY 5, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ?DYSTONIA 23, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPISODIC ATAXIA, TYPE 2, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, JOUBERT SYNDROME 5, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, SPINOCEREBELLAR ATAXIA 6, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, KEPPEN-LUBINSKY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, TIMOTHY SYNDROME, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, ALZHEIMER DISEASE-2, OTOPALATODIGITAL SYNDROME, TYPE I, DUCHENNE MUSCULAR DYSTROPHY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALCOHOL DEPENDENCE, CLOVE SYNDROME, SOMATIC, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, HYPERPARATHYROIDISM, NEONATAL, ANDERSEN SYNDROME, SEIZURES, BENIGN NEONATAL, TYPE 2, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, HETEROTOPIA, PERIVENTRICULAR, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, APOE, APP, DLG3, KCNQ1, DISC1, NGF, GNAO1, GNB4, HTR2A, DRD2, GNA11, PIK3R2, TGFB1, CACNA1B, NOS3, FLNA, DRD4, KRAS, LAMB1, CASR, KCNJ2, RYR1, KCNJ6, PRKACA, CACNA1C, PIK3CA, CEP290, AKT3, MTOR, AKT1, GNAQ, KCNMA1, SLC5A7, AKT2, NRAS, KCNQ3, JAK2, PEX19, GNAS, CHRNA4, ITPR1, CHAT, CACNA1A, SOS1, HRAS, CACNA1S, SNCA, PRKCG, KCNQ2, CACNA1D, MUSK, ADCY6, PIK3R5, ADCY5, SOS2, GNAI2, PLCB1, DMD, PIK3R1

LOEYS-DIETZ SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, PIERSON SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, POLYCYTHEMIA VERA, SOMATIC, CAMURATI-ENGELMANN DISEASE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PITUITARY ADENOMA, ACTH-SECRETING, OCULODENTODIGITAL DYSPLASIA, CORTICAL MALFORMATIONS, OCCIPITAL, KOSAKI OVERGROWTH SYNDROME, INCONTINENTIA PIGMENTI, HOLOPROSENCEPHALY-3, OCULOECTODERMAL SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, PERRY SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 44, PROTEUS SYNDROME, SOMATIC, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, RUBINSTEIN-TAYBI SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SMITH-KINGSMORE SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, LISSENCEPHALY 5, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, FACTOR XIIIA DEFICIENCY, CHOROID PLEXUS PAPILLOMA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ATAXIA-OCULOMOTOR APRAXIA 3, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LOEYS-DIETZ SYNDROME 4, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LISSENCEPHALY 3, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), LEOPARD SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}

CALM1, TGFBR1, TGFB2, APP, CTNNB1, GNAO1, IL10, CIITA, MYD88, IGF1, ALB, NGF, LAMA2, IKBKG, PIK3R2, PTPN11, HLA-DRB1, TGFB3, LAMB1, TNF, TGFB1, HAX1, LAMA1, CDK5, IRF3, LEP, AKT3, AKT1, IFNG, PRKDC, GJA1, AKT2, CCND1, JAK2, RELN, DCTN1, TUBA1A, TUBG1, HLA-DQA1, PIK3CA, TP53, HSPD1, LAMA4, HLA-DQB1, KRAS, PDGFRB, F13A1, CREBBP, PIK3R5, HSPG2, ESR1, STAT2, SHH, GNAI2, PLG, LAMC3, LAMB2, MTOR, PIK3R1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], CYSTATHIONINURIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?INFANTILE LIVER FAILURE SYNDROME 1, ARTS SYNDROME, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, EPILEPSY, PYRIDOXINE-DEPENDENT, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, GLUTAMINE DEFICIENCY, CONGENITAL, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, FRUCTOSE INTOLERANCE, MIRROR MOVEMENTS 2, CUTIS LAXA, AUTOSOMAL DOMINANT 3, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, PYRUVATE CARBOXYLASE DEFICIENCY, MYHRE SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, AMINOACYLASE 1 DEFICIENCY, COFFIN-SIRIS SYNDROME 3, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, LEBER OPTIC ATROPHY, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, FRONTOTEMPORAL DEMENTIA, NICOLAIDES-BARAITSER SYNDROME, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, CITRULLINEMIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, ARGININOSUCCINIC ACIDURIA, GLYCOGEN STORAGE DISEASE XII, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, NEU-LAXOVA SYNDROME 2, CEROID LIPOFUSCINOSIS, NEURONAL, 11, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, NEU-LAXOVA SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 10, ARGININEMIA, TYROSINEMIA, TYPE II, PHOSPHOSERINE PHOSPHATASE DEFICIENCY

PHGDH, OTC, SMARCA2, ALDOA, SMARCB1, PRPS1, TAT, SMAD4, EEF2, ALDH18A1, ASL, GRN, CBS, PGK1, ALDH7A1, GPT2, CTH, ARG1, PYCR2, GLUL, ACY1, GFPT1, PYCR1, TPI1, ALDOB, ASS1, MT-CYB, PC, TALDO1, MAT1A, QDPR, RAD51, HSPD1, PAH, PSAT1, ACO2, MTR, PCBD1, PCNA, PSPH, NAGS, CPS1, LARS, RPIA, INS

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AMYOTROPHIC LATERAL SCLEROSIS 20, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, GLANZMANN THROMBASTHENIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HOLOPROSENCEPHALY-9, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, HOLOPROSENCEPHALY-3, SECKEL SYNDROME 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SPINOCEREBELLAR ATAXIA 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PITUITARY DEPENDENT HYPERCORTISOLISM, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, ANGELMAN SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, FRAXE, ?TETRA-AMELIA SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, DYSTONIA 9, TUBEROUS SCLEROSIS 2, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, HAY-WELLS SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SYMPHALANGISM, PROXIMAL, 1A, CHOROID PLEXUS PAPILLOMA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, PAPILLORENAL SYNDROME, LOEYS-DIETZ SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, CHOREA, HEREDITARY BENIGN, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, OTOPALATODIGITAL SYNDROME, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPERPARATHYROIDISM, NEONATAL, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPATHY, NEONATAL SEVERE, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 3, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, LISSENCEPHALY 3, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, AYME-GRIPP SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PARIETAL FORAMINA 1, POLYCYSTIC LIVER DISEASE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CRANIOSYNOSTOSIS, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMED STRUDWICK TYPE, HETEROTOPIA, PERIVENTRICULAR, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DYSTONIA-PARKINSONISM, X-LINKED, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ?PARKINSONISM WITH SPASTICITY, X-LINKED, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, MACROCEPHALY/AUTISM SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, APERT SYNDROME, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, DEJERINE-SOTTAS DISEASE, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, DYSAUTONOMIA, FAMILIAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, LOEYS-DIETZ SYNDROME 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, SOD1, EZH2, CAV1, WNT5A, COL1A1, PRKACA, ACTB, GNAS, IKBKG, COL1A2, FTL, LEP, OTX2, B2M, PLG, CDKN2A, NOG, EGR2, PRF1, RAB7A, IKBKAP, SMARCA4, HLA-DQA1, PIK3CA, BMP4, TGFBR2, HNRNPA1, PDGFRB, SMAD4, CREBBP, MRE11A, COL2A1, IL2RG, MUSK, BCKDHA, ACTA1, WNT7A, TGFB2, KRAS, CBL, TUBA1A, SERPINA1, ADCY6, NOS3, THRA, GLI2, BUB1B, CIITA, MTOR, FGFR1, TAF6, MECP2, AKT2, JAK2, MSX2, IL10, GNAI2, CCND1, IFNG, NKX2-1, WNT3, WNT1, TGFBR1, ITPR1, TAF1, HSPD1, ROR2, T, ACTA2, GSC, TP63, ADCY5, INS, PAX8, GATA1, ITGB3, CTNNB1, EP300, IGF1, DVL3, GDNF, PAX2, HLA-DRB1, TGFB3, SLC2A1, CASR, NFKB2, PPP2R1A, BRCA1, NR3C1, AKT1, CCND2, CNTN2, TP53, SLC25A4, IHH, GLI3, CSNK1D, TERT, PTEN, PIK3R5, MAF, LYZ, RUNX2, NRAS, FLNA, NGF, PAX3, ACTG1, ALB, CSF1R, PIK3R2, TGFB1, PRKCSH, PTPN11, ATM, SOS2, GATA6, TBP, IRF3, ACVR1, MT-CO2, INSR, NOTCH1, AKT3, SOS1, UQCRC2, DNMT1, FGFR2, ATP6AP2, PIK3R1, JAK3, PDGFRA, PCNA, HRAS, HLA-DQB1, ATR, HSPG2, TNF, ESR1, PDGFB, PORCN, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, LATERAL MENINGOCELE SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, BARAITSER-WINTER SYNDROME 1, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SMED STRUDWICK TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ACHONDROPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, WEISSENBACHER-ZWEYMULLER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, SENIOR-LOKEN SYNDROME 6, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLUCOCORTICOID RESISTANCE, MULTIPLE SULFATASE DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CAMURATI-ENGELMANN DISEASE, PORETTI-BOLTSHAUSER SYNDROME, LISSENCEPHALY 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, ALEXANDER DISEASE, PORENCEPHALY 1, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, PSEUDOACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MEIER-GORLIN SYNDROME 5, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, SPINOCEREBELLAR ATAXIA 27, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, CLEFT PALATE, ISOLATED, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, PIERSON SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CORPUS CALLOSUM, PARTIAL AGENESIS OF, CRANIOFRONTONASAL DYSPLASIA, ADAMS-OLIVER SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, MISMATCH REPAIR CANCER SYNDROME, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, TUBEROUS SCLEROSIS-1, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 44, NOONAN SYNDROME 9, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SHORT SYNDROME, JOUBERT SYNDROME 5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RABSON-MENDENHALL SYNDROME, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, HAY-WELLS SYNDROME, MECKEL SYNDROME 4, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, CHOROID PLEXUS PAPILLOMA, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, PAPILLORENAL SYNDROME, LOEYS-DIETZ SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, POLYCYTHEMIA VERA, SOMATIC, COLE-CARPENTER SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, HARTSFIELD SYNDROME, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OCULOECTODERMAL SYNDROME, ALZHEIMER DISEASE-2, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, ?IMMUNODEFICIENCY 45, OTOPALATODIGITAL SYNDROME, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?OSTEOGENESIS IMPERFECTA, TYPE XII, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, GLYCOGEN STORAGE DISEASE 0, LIVER, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ALCOHOL DEPENDENCE, ALAGILLE SYNDROME, SED CONGENITA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MYHRE SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, WISKOTT-ALDRICH SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, LISSENCEPHALY 3, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, CLOVE SYNDROME, SOMATIC, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, CORTICAL MALFORMATIONS, OCCIPITAL, GILLESPIE SYNDROME, HETEROTOPIA, PERIVENTRICULAR, PORENCEPHALY 2, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME, MACROCEPHALY/AUTISM SYNDROME, SPINOCEREBELLAR ATAXIA 12, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MUENKE SYNDROME, GLYCOGEN STORAGE DISEASE 0, MUSCLE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, TUMOR PREDISPOSITION SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, FACTOR XIIIA DEFICIENCY, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, LEOPARD SYNDROME 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LOEYS-DIETZ SYNDROME 4, WAARDENBURG SYNDROME, TYPE 4C, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, APOE, LAMB1, FGFR1, WNT5A, TSC2, COL1A1, MAP2K2, PRPH, ACTB, IGBP1, IKBKG, COL1A2, FTL, F2, MAG, AGT, COL11A2, P4HB, COL5A1, ARHGEF9, OTX2, CDC6, BTK, DDR2, G6PC3, FGA, UBB, AKT3, NOG, FGF3, ITGA3, LAMB2, TH, PIK3CA, SOS1, PAX6, PRF1, JAG1, TGFBR2, PDGFRB, SMAD4, TBK1, MSH2, COL2A1, IL2RG, RBPJ, ERBB4, ACTA1, WNT7A, TGFB2, F13A1, KRAS, LAMA4, IL10, PLAU, CEP290, CREBBP, DRD2, SP7, IGF2, CDK6, NOS3, DAG1, COL6A1, TNF, MYD88, MTOR, EDNRA, LEP, LAMA1, GHR, AKT2, COMP, ESR1, CBL, PLOD3, GNAI2, CCND1, PTH, JAK2, GNAS, RELN, PDGFRA, TGFBR1, ITPR1, HSPD1, BAP1, T, NOTCH3, PPP2R2B, HCFC1, HTR2A, RPS6KA3, TP63, DUSP6, NOTCH1, INS, BIN1, GFAP, SOS2, GNB4, TUBG1, ITGB3, GJA1, SHOC2, CTNNB1, EP300, IGF1, CDK5, PAX2, GYS1, CASR, PCK1, SOX9, VHL, COL4A1, PPP2R1A, GRIN2B, FGF20, BRCA1, AKT1, CCND2, SOX2, INPPL1, PRKDC, ACACA, IGF1R, COL18A1, TP53, TUBA1A, IHH, LAMC3, ITGA2B, FGF17, ITCH, HSPA9, EFNB1, ATIC, PTEN, FGFR3, PIK3R5, STAT2, SOX10, COL6A3, RUNX2, SUMF1, NRAS, COL6A2, FLNA, FGF14, NGF, PPP2R5D, OSMR, ALB, CSF1R, PIK3R2, TGFB1, IFNAR2, PTPN11, JAK3, IRF3, WAS, PCNA, INSR, COL5A2, PLG, PDGFB, SERPINH1, GYS2, FGFR2, COL4A2, L1CAM, BDNF, APP, HRAS, LAMA2, ITGA7, MAPT, EPOR, MYH11, NR3C1, HSPG2, TSC1, PIK3R1, PROK2, SHH

PERRAULT SYNDROME 1, ?ACAT2 DEFICIENCY, VLCAD DEFICIENCY, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SPINOCEREBELLAR ATAXIA 38, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2B, CPT DEFICIENCY, HEPATIC, TYPE II, CPT DEFICIENCY, HEPATIC, TYPE IA, TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CEROID LIPOFUSCINOSIS, NEURONAL, 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PHYTANIC ACID STORAGE DISEASE, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ACETYL-COA CARBOXYLASE DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MENTAL RETARDATION, X-LINKED 63, ALPHA-METHYLACETOACETIC ACIDURIA, 2-METHYLBUTYRYLGLYCINURIA, CPT II DEFICIENCY, LETHAL NEONATAL, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

TUBA8, ECHS1, CTNNB1, HCCS, CPT2, ACADS, HSD17B4, CPT1C, HADH, ELOVL5, HADHB, ACAT1, HADHA, ACACA, PPT1, CPT1A, PCNA, TECR, ACAT2, ACSL4, ACADSB, PEX5, ACADM, ACADVL, PEX7, ACOX1

SUPRANUCLEAR PALSY, PROGRESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, CAPOS SYNDROME, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, GLUTARICACIDURIA, TYPE I, CEROID LIPOFUSCINOSIS NEURONAL 6, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, SICKLE CELL ANEMIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, CEREBROTENDINOUS XANTHOMATOSIS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?UROCANASE DEFICIENCY, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, EXOSTOSES, MULTIPLE, TYPE 1, OGDEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ATAXIA-TELANGIECTASIA-LIKE DISORDER, GAUCHER DISEASE, TYPE IIIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, LIPOYLTRANSFERASE 1 DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PYRUVATE CARBOXYLASE DEFICIENCY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, CK SYNDROME, IMMUNODEFICIENCY 44, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, BRUNNER SYNDROME, ANGELMAN SYNDROME, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, MUCOPOLYSACCHARIDOSIS TYPE IIID, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, GLUTAMINE DEFICIENCY, CONGENITAL, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, PARAGANGLIOMAS 3, INFANTILE NEUROAXONAL DYSTROPHY 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, PELGER-HUET ANOMALY, LUSCAN-LUMISH SYNDROME, KLEEFSTRA SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, ARTS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, COPROPORPHYRIA, HARDEROPORPHYRIA, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, HYPER-IGD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, MUCOPOLYSACCHARIDOSIS VII, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, TRIGONOCEPHALY 1, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUENKE SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, SENGERS SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, CORNELIA DE LANGE SYNDROME 5, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPERPROLINEMIA, TYPE II, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, HYPERLYSINEMIA, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), PEROXISOME BIOGENESIS DISORDER 11B, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, DEAFNESS, X-LINKED 5, COENZYME Q10 DEFICIENCY, PRIMARY, 3, SACCHAROPINURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, CRANIOSYNOSTOSIS, TYPE 2, NOONAN SYNDROME 7, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, {PANIC DISORDER, SUSCEPTIBILITY TO}, CROUZON SYNDROME, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 30/47, PICK DISEASE, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, 2-METHYLBUTYRYLGLYCINURIA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, HETEROTOPIA, PERIVENTRICULAR, TYROSINEMIA, TYPE II, MUCOPOLYSACCHARIDOSIS IVA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, ?LICHTENSTEIN-KNORR SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, [HISTIDINEMIA], SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MEDNIK SYNDROME, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AMINOACYLASE 1 DEFICIENCY, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, CEREBROOCULOFACIOSKELETAL SYNDROME 4, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, TYROSINEMIA, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, MYOCLONUS, FAMILIAL CORTICAL, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, GALACTOKINASE DEFICIENCY WITH CATARACTS, COFFIN-SIRIS SYNDROME 3, CATEL-MANZKE SYNDROME, RHEUMATOID ARTHRITIS, STRIATONIGRAL DEGENERATION, INFANTILE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MALOUF SYNDROME, HARP SYNDROME, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, SEGAWA SYNDROME, RECESSIVE, PAROXYSMAL NONKINESIGENIC DYSKINESIA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, DIHYDROPYRIMIDINURIA, PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, EVEN-PLUS SYNDROME, GALACTOSEMIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, CLEFT PALATE, ISOLATED, CRIGLER-NAJJAR SYNDROME, TYPE I, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, FRUCTOSE INTOLERANCE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, SPINOCEREBELLAR ATAXIA 21, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, APERT SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, DESBUQUOIS DYSPLASIA 2, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HYPOCHONDROPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, EXOSTOSES, MULTIPLE, TYPE 2, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, POLYCYSTIC LIVER DISEASE, EPILEPSY, PYRIDOXINE-DEPENDENT, ?N SYNDROME, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, NEU-LAXOVA SYNDROME 2, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 9, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, LESCH-NYHAN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ?HYDROXYKYNURENINURIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?MICROPHTHALMIA, SYNDROMIC 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NEUROCUTANEOUS MELANOSIS, SOMATIC, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CEROID LIPOFUSCINOSIS, NEURONAL, 11, ISOVALERIC ACIDEMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, XERODERMA PIGMENTOSUM, GROUP D, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, LEOPARD SYNDROME 1, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, CAMURATI-ENGELMANN DISEASE, ?ACAT2 DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, LATHOSTEROLOSIS, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, AMISH INFANTILE EPILEPSY SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, CEROID LIPOFUSCINOSIS, NEURONAL, 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, DEJERINE-SOTTAS DISEASE, BETA-UREIDOPROPIONASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FRONTOMETAPHYSEAL DYSPLASIA, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, GAUCHER DISEASE, PERINATAL LETHAL, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OROTIC ACIDURIA, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, HMG-COA LYASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, OSTEOGENESIS IMPERFECTA, TYPE III, HOLOPROSENCEPHALY-3, PEROXISOME BIOGENESIS DISORDER 2B, POLYCYTHEMIA VERA, SOMATIC, USHER SYNDROME TYPE 3B, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARKINSON DISEASE 1, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, GRISCELLI SYNDROME, TYPE 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BURN-MCKEOWN SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, COFFIN-SIRIS SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ALCOHOL DEPENDENCE, IMMUNODEFICIENCY 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CITRULLINEMIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, JOUBERT SYNDROME 4, POLYGLUCOSAN BODY DISEASE, ADULT FORM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, TREACHER COLLINS SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CANAVAN DISEASE, CYSTATHIONINURIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, PHYTANIC ACID STORAGE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MUCOPOLYSACCHARIDOSIS IS, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ?MICROPHTHALMIA, SYNDROMIC 13, HYPERPROLINEMIA, TYPE I, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, PARAGANGLIOMAS 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, GLUTATHIONE SYNTHETASE DEFICIENCY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, GLUCOCORTICOID RESISTANCE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, COLE-CARPENTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, FARBER LIPOGRANULOMATOSIS, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IA, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, CHIME SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, LOWE SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LEBER OPTIC ATROPHY AND DYSTONIA, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, COENZYME Q10 DEFICIENCY, PRIMARY, 7, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 8, CATSHL SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, ADAMS-OLIVER SYNDROME 3, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, MUCOPOLYSACCHARIDOSIS II, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, DYSTONIA-12, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, WAARDENBURG SYNDROME, TYPE 3, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, BJORNSTAD SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, MENTAL RETARDATION, X-LINKED 41, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE I, GABA-TRANSAMINASE DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCINE ENCEPHALOPATHY, GLYCOGEN STORAGE DISEASE II, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, XERODERMA PIGMENTOSUM, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, PERRAULT SYNDROME 5, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, DARIER DISEASE, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, {PARKINSON DISEASE 18}, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PARKINSON DISEASE 20, EARLY-ONSET, ENCEPHALOPATHY, NEONATAL SEVERE, CHOROID PLEXUS PAPILLOMA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, PARIETAL FORAMINA 1, WILSON-TURNER SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, NEU-LAXOVA SYNDROME 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ?SPASTIC PARAPLEGIA 63, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, HYPOPHOSPHATASIA, CHILDHOOD, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MISMATCH REPAIR CANCER SYNDROME, GLUCOCORTICOID DEFICIENCY 4, GM1-GANGLIOSIDOSIS, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MOLYBDENUM COFACTOR DEFICIENCY B, ASPARAGINE SYNTHETASE DEFICIENCY, ALPHA-METHYLACETOACETIC ACIDURIA, CODAS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, SMITH-KINGSMORE SYNDROME, NONAKA MYOPATHY

CALM1, TSC2, HBB, AMACR, LMNA, GPT2, ACADS, LBR, GNAS, GUSB, GSS, B3GAT3, HDC, VMA21, UBA1, NSDHL, GLYCTK, GALK1, EGR2, PEX13, FH, NAGS, AGK, WNK1, ARSE, POR, PMS2, SBF1, ACACA, PIGW, PIGM, LIPT1, EIF4G1, WWOX, UPB1, FGFR3, AR, OCRL, NDUFA1, IDS, ALDH7A1, PAXIP1, ABAT, ASAH1, MT-ND6, MGAT2, BTD, ALAD, IFNG, MRE11A, AIFM1, STT3A, CCND1, TALDO1, JAK2, SUCLA2, AP1S2, MAT1A, SGSH, HSPD1, NOL3, ATP6V1B2, GAD1, TNNT2, HTR2A, NAT8L, KMT2A, CYB5R3, NDUFA10, GAMT, ALDH3A2, PMM2, MT-CO1, MAN1B1, ALDOA, CTNNB1, PRPS1, TAT, SUFU, NDUFA12, SETD2, SMAD4, PIGY, TAF1, TNFSF11, LEP, PYCR1, CTSD, NARS2, ALG3, GLDC, PPP2R1A, DBH, NDUFA2, SSR4, AKT1, TPI1, PDSS2, TANGO2, COX15, EZH2, ACAT2, GALC, B4GAT1, BCKDHB, HSPA9, GNE, PEX5, ECHS1, CYP2U1, MTM1, ADK, POLA1, HMBS, EIF2B1, SPTLC2, NDST1, SLC9A1, HINT1, HNRNPK, EIF2B5, NPHP1, PIGL, PTPN11, GMPPA, HPD, RARS, PLCB1, MT-CO2, HMGB3, TPK1, RANBP2, DPM1, TUBGCP4, PAK3, B4GALT1, GPX4, RAB7A, B4GALT7, AMT, DHCR24, POLR3B, RDH11, FBP1, ALB, SDHB, GCH1, DMPK, SURF1, UGT1A1, MLYCD, APOB, QARS, TH, NAA10, GRN, MOCS2, DGUOK, GBA2, ALPL, ST3GAL3, PCCB, COX6A1, CCT5, PNPO, ACY1, MCCC2, UBE2A, IDUA, BAAT, NDUFS4, HADH, ASPM, SPTAN1, MMAB, PGAP1, DES, MT-CO3, PCCA, GALNS, DLD, RRM2B, NRAS, UQCRB, GNAI2, MAOA, RYR2, ATN1, IVD, SOX9, KYNU, TGFB2, SCP2, ALDOB, PLAU, NPPA, DRD3, PSPH, XPA, MPI, NOTCH1, MYCN, CBS, CORO1A, GPI, PRODH, CFL2, MSX2, GK, EARS2, PTH, ADAMTS10, JUP, TCIRG1, HARS, TAZ, FANCA, BRAF, SLC35A2, NDUFS3, DMD, DLAT, DPH1, NDUFB3, MT-ATP6, IGF1, ALG1, SMAD9, CYP27B1, SC5D, GMPPB, EEF2, AASS, B4GALNT1, TGDS, HMGCL, SMC1A, GBE1, SLC5A7, VDR, FGFR1, NAGLU, ATXN1, ETFA, POLG, ITPA, CLIC2, SNCA, HAX1, HK1, NT5C2, COQ4, GCLC, TXNL4A, MT-ND3, SCYL1, COX7B, NDUFV1, OTC, IRF5, DLG3, KRT8, PTS, PDHX, PAX3, ACTG1, ATP2A2, PRKCSH, XYLT1, P4HB, TYMP, DARS, VCP, MTR, SPTLC1, MUT, PLG, COQ9, NDUFB9, DNMT1, FCGR2B, LRP5, CPS1, PCNA, NEFL, POLR1C, DHFR, PMPCA, ASPA, ALDH18A1, HSPG2, TNF, EXT2, NDUFS2, C10orf2, MTOR, ATIC, MPDZ, ARL6IP1, F2, PAFAH1B1, STT3B, ADSL, GAA, TPM1, CYP27A1, IKBKG, HEXB, EFTUD2, CAV1, CTH, AGT, VPS53, MOGS, CDK5, KDM1A, ALG11, ERCC8, SMN2, DPYS, PNPLA2, FANCM, PIK3CA, GALT, UGT1A4, ST3GAL5, SIL1, HADHA, COX8A, PRKAG2, GFPT1, RBPJ, NUBPL, SMARCA4, UROC1, NDUFS7, GPC3, IGF2, PGK1, NOS3, NR1I3, MAPT, CAD, ALDH6A1, HEXA, NNT, MSMO1, ABCA1, ARG1, HGSNAT, KARS, POLR1D, MCPH1, DSE, RUNX2, DPYD, UQCRQ, NDUFA9, ALDH5A1, ALG6, DNM2, COX14, PANK2, DKC1, INS, PAM16, GFAP, COMT, GDI1, TECR, ITGB3, DAO, SMPD1, HSD17B10, PTDSS1, EXT1, G6PC3, GAL, SNTA1, VHL, BCS1L, FKBP14, BRCA1, NR3C1, CCL2, NGF, SMS, MT-CYB, ATP5A1, MT-ND1, DBT, MCCC1, TRPM7, ACADSB, NONO, ADH1B, POLG2, STAT2, COX10, FAH, LIAS, ATXN2, SDHA, SMARCB1, MTHFR, HDAC8, DPM2, DHCR7, MT-ND4, PNKD, SYNJ1, RPS6KA3, TBP, TAF6, PDGFRA, TGFB1, GATM, SLC33A1, DNMT3A, PPT1, GBA, SUCLG1, TRH, APP, MT-ND4L, MOCS1, HRAS, COQ6, NDUFS6, NDUFB11, ALDH4A1, PEX7, TINF2, TMEM199, TUFM, ALG13, CASK, NDUFS8, HLCS, PIGV, COL1A1, PRPH, ACOX1, NDUFA11, PIGT, ERCC1, COQ7, EBP, GLB1, MLH1, MYO5A, ACAT1, CERS1, OTX2, HIBCH, EIF2B2, HPRT1, BTK, COX6B1, CLASP1, SDHC, SCO2, NEU1, ALG2, EIF2B3, HAL, ERCC2, PDGFRB, XYLT2, AUH, ARHGDIA, UMPS, BLM, MT-ND2, DNMT3B, ATP6V0A2, SMARCA2, SDHD, ASNS, PIGO, KRAS, TP53, PAX6, CPOX, LMNB1, RYR1, AGXT, ALDH2, HELLS, BCKDHA, LONP1, UCHL1, ABCB7, HTT, FANCC, TUBG1, EP300, RAD51, AP1S1, RPIA, GCDH, CLPB, GNS, PCBD1, ACADVL, CYP24A1, CTDP1, GLUD1, PCK1, TUBA8, LARS, DPAGT1, RAB39B, GJA1, FTCD, INPP5E, NUP62, SPR, MECP2, MVK, DDC, GCK, PYCR2, GALE, HADHB, NDUFS1, MRPL3, PPOX, IGF1R, UQCRC2, SEC63, ACO2, ATP1A3, COASY, PSAT1, ARSB, GCSH, OGDH, ASS1, B3GALT6, ACADM, ADH1C, DDOST, INPPL1, ERLIN2, PAH, SUMF1, CYC1, NME1, FLNA, POLR3A, COQ2, HSD17B4, ASL, HPCA, PDHA1, ATM, AHCY, QDPR, ETFB, STX1B, ESR1, FXN, INSR, TUSC3, NDUFV2, MSH2, FGFR2, GLUD2, GNPAT, GLUL, COX4I2, MT-ND5, PLA2G6, PEX19, PNP, DOLK, AMPD2, ACSL4, PIGA, COL4A3BP, MYH11, PHGDH, ATR, NHP2, CHKB, PIK3R1, PC, PIGN, SHH