NEUROLOGIC

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, MONONEUROPATHY OF THE MEDIAN NERVE, MILD, GLUCOCORTICOID RESISTANCE, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {PARKINSON DISEASE 8}, SENIOR-LOKEN SYNDROME 6, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, 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, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MYHRE SYNDROME, 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, NEUROFIBROMATOSIS-NOONAN SYNDROME, DYSTONIA-11, MYOCLONIC, AMYOTROPHIC LATERAL SCLEROSIS 19, AMINOACYLASE 1 DEFICIENCY, GILLESPIE SYNDROME, CAMURATI-ENGELMANN DISEASE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), DEJERINE-SOTTAS DISEASE, FRONTOTEMPORAL DEMENTIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, AGAMMAGLOBULINEMIA, X-LINKED 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PITT-HOPKINS SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, JOUBERT SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, FRONTOMETAPHYSEAL DYSPLASIA, COWCHOCK SYNDROME, MECKEL SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ADAMS-OLIVER SYNDROME 3, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, 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, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, OHDO SYNDROME, X-LINKED, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, WAARDENBURG SYNDROME, TYPE 3, HERMANSKY-PUDLAK SYNDROME 2, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHOROID PLEXUS PAPILLOMA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LOEYS-DIETZ SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CULLER-JONES SYNDROME, WEAVER SYNDROME, PALLISTER-HALL SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FUMARASE DEFICIENCY, TIMOTHY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, CINCA SYNDROME, MENTAL RETARDATION, X-LINKED 41, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ALZHEIMER DISEASE-2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COFFIN-SIRIS SYNDROME 4, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, ?DYSTONIA, JUVENILE-ONSET, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, HETEROTOPIA, PERIVENTRICULAR, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 37, ALCOHOL DEPENDENCE, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, NEUROFIBROMATOSIS, TYPE 1, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, POLYCYTHEMIA VERA, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WISKOTT-ALDRICH SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, {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, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ALZHEIMER DISEASE, TYPE 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, COPROPORPHYRIA, HARDEROPORPHYRIA, ROBINOW SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, INCONTINENTIA PIGMENTI, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DEAFNESS, X-LINKED 5, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, LUJAN-FRYNS SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, {PARKINSON DISEASE 17}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ERYTHROCYTOSIS, FAMILIAL, 2, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF DEGLYCOSYLATION, MACROCEPHALY/AUTISM SYNDROME, CRANIOSYNOSTOSIS 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, DIAMOND-BLACKFAN ANEMIA 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LOEYS-DIETZ SYNDROME 4, TYROSINEMIA, TYPE II, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, APOE, PEX14, PARK7, APOB, CDK5, PDE4D, NGLY1, ACTB, SORL1, IKBKG, PSEN1, CAV1, KRIT1, AGT, HAX1, CTNNB1, LRRK2, SOX2, ASCC1, CASR, PRKAR1A, SNCA, UBA1, ALB, EIF2B2, BTK, SMN2, RYR2, CDKN2A, ERBB4, FH, DACT1, PROK2, SUFU, SMARCA4, PIK3CA, PCNT, NOTCH1, BMP4, BMPER, EMD, DRD2, SMAD4, CREBBP, GHSR, GNAI2, RBPJ, NF1, ACTA1, VRK1, TGFB2, GNAQ, ERBB3, GLI2, TUBA1A, TBK1, AR, NOS3, THRA, TNF, MTOR, EDNRA, MEF2C, LEP, AKT2, JAK2, AIFM1, IL10, WWOX, CCND1, IFNG, JUP, GLIS3, EEF1A2, ITPR1, TGFB3, HSPD1, GJB1, MAX, SYN1, STX11, HTR2A, WAS, DUSP6, INS, DNM1L, NFKB2, GDI1, TGFBR1, ITGB3, GJA1, SOX9, KCNMA1, EP300, IGF1, ZIC1, DVL3, CEP290, HDAC6, LRP5, SH3TC2, GAL, ARG1, VHL, PPP2R1A, GRIN2B, TUBB, VPS35, BRCA1, AKT1, CCND2, SLC9A1, VDR, WNT5A, ATXN1, HTR1A, UQCRC2, MED17, PAX6, EZH2, GLI3, ACY1, CSNK1D, LITAF, RPS19, PTEN, F13A1, AKAP10, NLRP12, NFKBIL1, RUNX2, PRKDC, TAT, FLNA, NGF, RAB23, PAX3, NR3C1, EIF2B1, BCL10, STXBP1, PTPN11, ANK3, SPG7, TGFB1, ESR1, PRKACA, PCNA, CACNA1C, TCF4, RFXANK, MED12, TP53, RBCK1, DNMT1, CPOX, BDNF, APP, HRAS, LRP2, AP3B1, ATP2A2, NLRP3, PIK3R1, SHH

{CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, 46XY SEX REVERSAL 9, MICROPHTHALMIA, SYNDROMIC 6, CAPOS SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, JOUBERT SYNDROME 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CARASIL SYNDROME, DANON DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SPINOCEREBELLAR ATAXIA 15, HOLOPROSENCEPHALY-4, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, IMMUNODEFICIENCY 44, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, LOEYS-DIETZ SYNDROME 1, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, CARPAL TUNNEL SYNDROME, FAMILIAL, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ADAMS-OLIVER SYNDROME 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRAGILE X SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, ?MENTAL RETARDATION, X-LINKED 100, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, CROUZON SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, CHEDIAK-HIGASHI SYNDROME, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2, HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, 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, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MELNICK-NEEDLES SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, ACROCAPITOFEMORAL DYSPLASIA, LEOPARD SYNDROME 3, STORMORKEN SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ALZHEIMER DISEASE, TYPE 4, PSEUDOPSEUDOHYPOPARATHYROIDISM, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, NOONAN SYNDROME 9, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, ?SPINOCEREBELLAR ATAXIA 41, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, RHEUMATOID ARTHRITIS, 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, AMYLOIDOSIS, FINNISH TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, FRAXE, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OPSISMODYSPLASIA, MYOPATHY, TUBULAR AGGREGATE, 2, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PICK DISEASE, ?IMMUNODEFICIENCY 45, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, FRAGILE X TREMOR/ATAXIA SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BECKER MUSCULAR DYSTROPHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 17, OSTEOGENESIS IMPERFECTA, TYPE III, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, MENTAL RETARDATION, X-LINKED 19, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ERYTHROCYTOSIS, FAMILIAL, 2, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, COMPLEMENT FACTOR I DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, HYPOBETALIPOPROTEINEMIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GRISCELLI SYNDROME, TYPE 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, 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, DEJERINE-SOTTAS DISEASE, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MOYAMOYA 6 WITH ACHALASIA, HOLOPROSENCEPHALY-3, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARKINSON DISEASE 1, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, FRONTOMETAPHYSEAL DYSPLASIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, KRABBE DISEASE, ATYPICAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, COMBINED SAP DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, POLYCYTHEMIA VERA, SOMATIC, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALCOHOL DEPENDENCE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, TANGIER DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, NASU-HAKOLA DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MEIER-GORLIN SYNDROME 4, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PHYTANIC ACID STORAGE DISEASE, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, MYHRE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, 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, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SPINOCEREBELLAR ATAXIA 5, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, GLUCOCORTICOID RESISTANCE, COLE-CARPENTER SYNDROME 1, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], GILLESPIE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, STROMME SYNDROME, TRIGONOCEPHALY 1, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, OCULODENTODIGITAL DYSPLASIA, PERRY SYNDROME, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, DYSTONIA-12, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, ?BARDET-BIEDL SYNDROME 11, ALZHEIMER DISEASE-2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, SED CONGENITA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DARIER DISEASE, {PARKINSON DISEASE 18}, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPATHY, NEONATAL SEVERE, CHOROID PLEXUS PAPILLOMA, MYOPATHY, MYOFIBRILLAR, 6, ANGIOEDEMA, HEREDITARY, TYPES I AND II, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, ?MYOPATHY, SCAPULOHUMEROPERONEAL, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2

CALM1, SOD1, ADRA2B, CAV1, HBB, FGFR1, APOB, CD244, HSPB1, APOE, ATP2B3, PRKACA, ACTB, GNA11, STIM1, GNAS, IKBKG, CDT1, PSEN1, ALDOA, NGF, F2, MAG, AGT, A2M, MYO5A, LEP, PDE11A, SPARC, SOX2, CASR, KDM1A, SNCA, IGF2, ALB, ITGA2B, MFN2, FGA, B2M, COL18A1, COL6A1, CDKN2A, NPHP1, CBL, P4HB, EGR2, ITGA3, BMP4, RAB7A, COL2A1, TUBB4A, SPTAN1, COL1A1, DNM2, DES, PIK3CA, TRIM32, PTPN11, PRF1, PRKCH, TYROBP, ARHGDIA, PDGFRB, SMAD4, ADCY6, TGIF1, GNAI2, HTR1A, CTNNB1, ATN1, PTEN, ACTA1, DNM1, EDNRA, F5, TGFB2, ACVR1, FBLN5, PHYH, ERBB3, PDE10A, PAX6, NPPA, DRD3, CREBBP, AR, ORAI1, IFNAR2, NOS3, NRAS, DRD4, LAMA1, MPL, PROC, CENPF, MTOR, GPI, SERPINA1, PTH, SCARB2, NTRK1, MECP2, TPM1, ABCA1, JAK2, EIF4G1, KIF5C, DOCK6, SMARCE1, TRPC3, CCND1, MMP13, GNAQ, IFNG, KLC2, PDE3A, HTT, AVPR2, FMR1, SERPING1, TGFBR1, ITPR1, GLUD1, HSPD1, EZH2, RAB27A, TSHR, SLC7A7, TUBA4A, PCNA, HTR2A, F7, RPS6KA3, WAS, BRAF, INS, ABCC8, JAM3, BIN1, DMD, MYD88, GATA1, FCGR2A, TTR, POLR1C, ITGB3, SHH, GJA1, SOX9, KCNMA1, EP300, IGF1, CDK5, VPS45, KIF2A, LYST, HLA-DRB1, TGFB3, ZFPM2, EEF2, CTSD, VHL, COL4A1, PPP2R1A, GRIN2B, F10, BRCA1, VPS11, PRKAR1A, AKT1, TUBB3, KRAS, INPPL1, AIP, AKAP10, IGF1R, ATXN1, APOA1, TP53, UBE3A, ATP1A3, SPTBN2, MPDZ, DCTN1, PLAU, IHH, GLI3, KIF11, CSNK1D, ITCH, HAX1, TTN, PRKCG, EFNB1, ERBB4, F13A1, MUSK, PIK3R5, TH, GSN, CIITA, ACVRL1, STAT2, EFEMP2, GUCY1A3, GSC, SERPINC1, SH2B3, IRF5, DLG3, UBQLN2, HTRA1, SLC9A1, LYZ, HNRNPK, CD59, IL10, FLNC, PIK3R2, KIF22, DOCK8, CENPE, FLNA, SOS2, GATA6, NR3C1, TBP, DTNBP1, AP3B1, TGFB1, PCLO, STXBP1, ENTPD1, TP63, MT-CO2, CFI, INSR, NOTCH1, PLG, PDGFB, SOS1, RANBP2, FGFR2, KIF4A, SLC16A1, ATP1A2, TBK1, L1CAM, BDNF, KIF5A, CLASP1, APP, RET, CTCF, PSAP, SMC3, HRAS, COL1A2, LRP2, LAMP2, CTSA, MYH11, BAG3, ATP2A2, HSPG2, TNF, ESR1, TGFBR2, PIK3R1, PDE4D, SCRIB, SH2D1A, HFE, IRF3, ATIC

ADAMS-OLIVER SYNDROME 5, PAPILLORENAL SYNDROME, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CAMURATI-ENGELMANN DISEASE, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-3, MULTIPLE ENDOCRINE NEOPLASIA IIB, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, CORNELIA DE LANGE SYNDROME 4, MICROPHTHALMIA, SYNDROMIC 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, WATSON SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, FRONTOTEMPORAL DEMENTIA, 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, 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}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?OTOFACIOCERVICAL SYNDROME, PALLISTER-HALL SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ALZHEIMER DISEASE, TYPE 4, FRONTONASAL DYSPLASIA 2, RUBINSTEIN-TAYBI SYNDROME, NEUROFIBROMATOSIS, TYPE 1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, NEUROFIBROMATOSIS, FAMILIAL SPINAL, CHOROID PLEXUS PAPILLOMA, ROBINOW SYNDROME, PROTEUS SYNDROME, SOMATIC

APP, SOX2, ERBB3, NKX2-5, PTEN, RAD21, DVL3, TGFB1, GDNF, PAX2, AGT, PSEN1, AKT1, SMARCA4, NIPBL, TP53, RET, GLI3, SOS1, NOTCH1, BMP4, ZBTB16, NF1, SMAD4, CREBBP, TNF, ALX4, INS, IGF1, EYA1, SHH

AMYOTROPHIC LATERAL SCLEROSIS 20, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, MIRROR MOVEMENTS 1, {PARKINSON DISEASE 8}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DEAFNESS, AUTOSOMAL DOMINANT 11, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, DYSTONIA-11, MYOCLONIC, CARASIL SYNDROME, CAMURATI-ENGELMANN DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, DYSTONIA 9, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, 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, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SPINOCEREBELLAR ATAXIA 15, 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, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, IMMUNODEFICIENCY 44, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MYOPATHY, MYOFIBRILLAR, 5, NEUROFIBROMATOSIS, TYPE 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?DYSTONIA 23, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, CULLER-JONES SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, CLOVE SYNDROME, SOMATIC, EIKEN SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CARPAL TUNNEL SYNDROME, FAMILIAL, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, PARKINSON DISEASE 6, EARLY ONSET, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, VAN DEN ENDE-GUPTA SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, DICARBOXYLIC AMINOACIDURIA, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, DEAFNESS, X-LINKED 5, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, CRANIOSYNOSTOSIS, TYPE 2, NOONAN SYNDROME 7, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DYSTONIA-PARKINSONISM, X-LINKED, MYOCLONIC-ATONIC EPILEPSY, HARTNUP DISORDER, DYSAUTONOMIA, FAMILIAL, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, PICK DISEASE, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ?NARCOLEPSY 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GLUTAMINE DEFICIENCY, CONGENITAL, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ATELOSTEOGENESIS, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, HOLOPROSENCEPHALY-7, GLANZMANN THROMBASTHENIA, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?SPINOCEREBELLAR ATAXIA 26, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, LISSENCEPHALY 5, LEOPARD SYNDROME 3, NEMALINE MYOPATHY 5, AMISH TYPE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, HOLOPROSENCEPHALY-9, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, CINCA SYNDROME, VELOCARDIOFACIAL SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?SPINOCEREBELLAR ATAXIA 41, RHEUMATOID ARTHRITIS, 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, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, FRAXE, OPSISMODYSPLASIA, MALOUF SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CHAR SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, CLEFT PALATE, ISOLATED, MUSCULAR DYSTROPHY, CONGENITAL, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, DIGEORGE SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, NOONAN SYNDROME 10, ALAGILLE SYNDROME, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, AMYOTROPHY, HEREDITARY NEURALGIC, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, SPINOCEREBELLAR ATAXIA 17, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CEROID LIPOFUSCINOSIS, NEURONAL, 3, LEUKODYSTROPHY, HYPOMYELINATING, 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, HETEROTOPIA, PERIVENTRICULAR, ULNAR-MAMMARY SYNDROME, HYPOBETALIPOPROTEINEMIA, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, SENIOR-LOKEN SYNDROME 9, HYPEREKPLEXIA HEREDITARY, HEART-HAND SYNDROME, SLOVENIAN TYPE, TUMOR PREDISPOSITION SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, GRISCELLI SYNDROME, TYPE 2, FACTOR XIIIA DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEOPARD SYNDROME 1, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, USHER SYNDROME, TYPE 1B, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, PHELAN-MCDERMID SYNDROME, 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, ?LICHTENSTEIN-KNORR SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), ALZHEIMER DISEASE, TYPE 4, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, HOLOPROSENCEPHALY-3, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, FRONTOMETAPHYSEAL DYSPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, PAPILLORENAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, POLYCYTHEMIA VERA, SOMATIC, COLE-CARPENTER SYNDROME 1, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, OCULOECTODERMAL SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, USHER SYNDROME, TYPE 1F, COFFIN-SIRIS SYNDROME 4, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ALCOHOL DEPENDENCE, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, TANGIER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, COPROPORPHYRIA, HARDEROPORPHYRIA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HAY-WELLS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, WATSON SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, OSTEOGENESIS IMPERFECTA, TYPE VIII, RUBINSTEIN-TAYBI SYNDROME 2, PARKINSON DISEASE, JUVENILE, TYPE 2, KEPPEN-LUBINSKY 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, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, SPINOCEREBELLAR ATAXIA 5, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, EPILEPSY, PROGRESSIVE MYOCLONIC 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, INFANTILE NEUROAXONAL DYSTROPHY 1, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], GILLESPIE SYNDROME, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, AGAMMAGLOBULINEMIA, X-LINKED 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, EPISODIC ATAXIA, TYPE 2, DIABETES INSIPIDUS, NEPHROGENIC, TRIGONOCEPHALY 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IC, DIAPHANOSPONDYLODYSOSTOSIS, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, OCULODENTODIGITAL DYSPLASIA, PERRY SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, RUBINSTEIN-TAYBI SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, COWCHOCK SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, SPINOCEREBELLAR ATAXIA 6, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SPINOCEREBELLAR ATAXIA 13, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, OSTEOGLOPHONIC DYSPLASIA, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHOREA, HEREDITARY BENIGN, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ALZHEIMER DISEASE-2, OTOPALATODIGITAL SYNDROME, TYPE I, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, MENTAL RETARDATION, X-LINKED 21/34, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), DARIER DISEASE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, HYPERTHYROIDISM, NONAUTOIMMUNE, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, MYOPATHY, MYOFIBRILLAR, 6, PARIETAL FORAMINA 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, DIABETES INSIPIDUS, NEPHROGENIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, LEUKODYSTROPHY, HYPOMYELINATING, 12, CRANIOSYNOSTOSIS, TYPE 1, MISMATCH REPAIR CANCER SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SPINOCEREBELLAR ATAXIA 42, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DEAFNESS, AUTOSOMAL RECESSIVE 2, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, ?MYOPATHY, SCAPULOHUMEROPERONEAL, 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, SMITH-KINGSMORE SYNDROME

CA2, CALM1, APOE, LAMB1, CLN3, HSPB1, TSC2, SPTLC1, GNAS, CIITA, KRIT1, KIF11, LRRK2, SLC6A3, KCNH2, NLRP12, B2M, SCARF2, RAB7A, DNM2, WNK1, TYROBP, TGFBR2, CREBBP, P3H1, WWOX, SLC6A19, PTEN, SOX2, ERBB3, AR, P4HB, RNF216, DRD4, BUB1B, MTOR, TAF6, GRIN2B, AIFM1, IL10, SMARCE1, CCND1, PER2, TNNT1, NKX2-1, JUP, ITPR1, HSPD1, ROR2, T, HTR2A, TP63, DUSP6, SMC3, KCNC1, TUBG1, CTNNB1, SMAD4, DVL3, NDUFAF2, TNFSF11, ARG1, CASQ2, TUBB, MYO7A, AKT1, INPPL1, KCNA2, UBE3A, TWIST1, A2M, IL1RN, EIF2B1, LRP5, SLC9A1, GNAO1, PINK1, PIK3R2, NPHP1, PTPN11, B4GALT1, SPG7, RARS, PLCB1, VPS11, PCDH15, TFAP2B, RANBP2, PAK3, BDNF, GLRA1, CTNS, SOX11, NR3C1, EXOC8, PDE4D, NDUFS2, PARK7, APOB, TH, MT-CO2, MFN2, PGK1, PIK3CA, PSEN1, ITGA2B, FGA, UBB, HADH, IKBKAP, NPR2, PROK2, MPO, FADD, PRF1, ARHGDIA, GNAI2, SF3B4, SOX9, TGFB2, GNAQ, TRPC3, PLAU, NPPA, ADCY6, PDE8B, NOTCH1, FGFR1, MEF2C, MSX2, KIF5C, PTH, EDN3, SYT2, GDNF, CACNA1A, BAP1, GPHN, BRAF, SNAP25, DMD, KCNB1, SLC2A2, IGF1, PTH1R, EEF2, NDN, DRD2, ASCL1, DRD3, ATXN1, APOA1, KARS, ADRA2B, SNCA, KCNQ2, NF1, LYZ, DYNC1H1, DLG3, CHRNE, KCNMA1, PTS, ATP2A2, TGFB1, GNAL, DTNBP1, PCLO, CACNA1C, PARK2, KCNJ8, PLG, TP53, DNMT1, THRA, PCNA, POLR1C, CTLA4, SLC6A1, HSPG2, NLRP3, ATIC, LMNA, F2, SALL1, CDK6, IKBKG, EFTUD2, AGT, SEPT9, KCNJ6, LEP, CDK5, WNT5A, NOP56, CACNA1B, ACSL4, BMPER, JAG1, HNRNPA1, GRID2, RBPJ, GLI2, ACTA1, DNM1, GRIP1, SMARCA4, HTR1A, CBL, LZTR1, NOS3, TNF, KIF5A, ACVRL1, ABCA1, JAK2, SNCAIP, MMP13, LRSAM1, GLIS3, SUCLA2, NR2F1, TBX3, TSHR, RPS6KA3, ACVR1, TBX1, INS, DNM1L, ABCC8, HAX1, ITGB3, SHANK3, PAX2, HLA-DRB1, SYN1, GAL, UQCC2, CCL2, TUBB3, BIN1, DCTN1, RPS19, AQP2, F13A1, STAT2, RYR2, GABRG2, AHI1, SSR4, KCNQ1, STUB1, CSF1R, STXBP1, JAK3, TBP, AP3B1, WAS, SERPINA1, SOS1, SLC1A1, ACD, STX11, TRH, APP, RET, GRM1, HRAS, OCLN, SLC2A1, HTRA1, BAG3, TINF2, FLNB, CASK, PDGFB, CAV1, DISC1, HCRT, COL1A1, MYD88, RAB27A, MYO5A, OTX2, PRKAR1A, ALB, TRAF3IP1, BTK, NEU1, BMP4, GHSR, PTCH1, SMARCA2, CHD7, KRAS, PAX6, NKX2-5, DNAJC5, CPOX, SLC16A1, CACNA1D, MID1, MEGF10, SLC6A4, IFNG, HTT, AVPR2, TGFBR1, EP300, TAF1, ZBTB16, GLUD1, JAM3, CTSD, PAX8, TTR, FLNC, KCNJ11, CACNA1G, GJA1, ACE, TGFB3, CASR, GCK, CCND2, DCC, IGF1R, SEC63, SLC25A4, MPDZ, CHRNA4, MUSK, ACADM, SYN2, SNAP29, DDOST, IL1RAPL1, RUNX2, FLNA, SEMA3A, NGF, ATM, AHCY, IRF3, STX1B, ESR1, PRKACA, INSR, SERPINH1, MSH2, DRD5, CPT1A, GLUL, PLA2G6, SPTBN2, HACE1, KCNC3, MYH11, ANK2, SHH, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, REVESZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ?DYSTONIA 23, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, USHER SYNDROME, TYPE 1B, BASAL CELL NEVUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 20, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NEMALINE MYOPATHY 5, AMISH TYPE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MYOTUBULAR MYOPATHY, X-LINKED, 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, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, DEAFNESS, AUTOSOMAL DOMINANT 11, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, HOLOPROSENCEPHALY-7, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA-11, MYOCLONIC, ?LICHTENSTEIN-KNORR SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, FRONTOTEMPORAL DEMENTIA, CAMURATI-ENGELMANN DISEASE, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, IMMUNODEFICIENCY 44, PARKINSON DISEASE 6, EARLY ONSET, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, NEUROFIBROMATOSIS, TYPE 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, ALZHEIMER DISEASE, TYPE 4, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, DYSTONIA 9, NEUROFIBROMATOSIS, FAMILIAL SPINAL, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ULNAR-MAMMARY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PERRY SYNDROME, MISMATCH REPAIR CANCER SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, PARKINSON DISEASE 4, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, NEPHROTIC SYNDROME, TYPE 8, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, COWCHOCK SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, 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, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OPSISMODYSPLASIA, CINCA SYNDROME, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALOUF SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {BLEPHAROSPASM, PRIMARY BENIGN}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, HYPEREKPLEXIA HEREDITARY, INFANTILE NEUROAXONAL DYSTROPHY 1, POLYCYTHEMIA VERA, SOMATIC, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, MUSCULAR DYSTROPHY, CONGENITAL, ALZHEIMER DISEASE-2, ATAXIA-TELANGIECTASIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COFFIN-SIRIS SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ALCOHOL DEPENDENCE, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, MELNICK-NEEDLES SYNDROME, CLOVE SYNDROME, SOMATIC, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, THYROTROPIN-RELEASING HORMONE 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, WISKOTT-ALDRICH SYNDROME, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, BECKER MUSCULAR DYSTROPHY, INCONTINENTIA PIGMENTI, 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}, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, DARIER DISEASE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NASU-HAKOLA DISEASE, HYPERTHYROIDISM, NONAUTOIMMUNE, OPITZ GBBB SYNDROME, TYPE I, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, LOEYS-DIETZ SYNDROME 5, PSEUDOHYPOPARATHYROIDISM IA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PARIETAL FORAMINA 1, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, DICARBOXYLIC AMINOACIDURIA, LOEYS-DIETZ SYNDROME 1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, GRISCELLI SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, DIABETES INSIPIDUS, NEPHROGENIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, DEAFNESS, X-LINKED 5, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, LEUKODYSTROPHY, HYPOMYELINATING, 9, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, CRANIOSYNOSTOSIS, TYPE 2, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, HETEROTOPIA, PERIVENTRICULAR, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, OTOPALATODIGITAL SYNDROME, TYPE I, CRANIOSYNOSTOSIS, TYPE 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOCLONIC-ATONIC EPILEPSY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MACROCEPHALY/AUTISM SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SENIOR-LOKEN SYNDROME 9, MENTAL RETARDATION, X-LINKED 30/47, HEART-HAND SYNDROME, SLOVENIAN TYPE, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, GRISCELLI SYNDROME, TYPE 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 42, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, DEAFNESS, AUTOSOMAL RECESSIVE 2, LEOPARD SYNDROME 1, DYSAUTONOMIA, FAMILIAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CARPAL TUNNEL SYNDROME, FAMILIAL, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, LOEYS-DIETZ SYNDROME 4, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

CALM1, CA2, APOE, NEU1, CAV1, DISC1, WNT5A, MPDZ, COL1A1, SALL1, MID1, MFN2, PGK1, IKBKG, CACNA1B, PSEN1, SMARCA4, SYN1, F2, RAB27A, AGT, MYO5A, CDK5, SLC6A3, PRKAR1A, ALB, ITGA2B, GJA1, NLRP12, FGA, UBB, IL10, NF1, RAB7A, IKBKAP, NPR2, PROK2, DNM2, PIK3CA, SOS1, BMP4, TYROBP, HNRNPA1, DRD2, CREBBP, ARHGDIA, SLC6A4, MUSK, ACTA1, AIFM1, DNM1, TGFB2, ACVR1, KRAS, ERBB3, CBL, PLAU, NPPA, DRD3, AR, GNAS, NOS3, GLUL, TNF, MYD88, KIF5A, SHANK3, MEF2C, CASK, MMP13, LEP, LMNA, IFNG, MSX2, KIF5C, ESR1, MEGF10, LYZ, CCND1, PTH, JAK2, EDN3, HTT, AVPR2, DNM1L, TNNT1, TGFBR1, EP300, GLUD1, GDNF, HSPD1, TBX3, TSHR, GLRA1, PCNA, HTR2A, SUCLA2, GPHN, INS, JAM3, ARG1, GCK, PTCH1, TTR, PLA2G6, ITGB3, CACNA1G, SHH, TRAF3IP1, IGF1, DVL3, HLA-DRB1, TGFB3, TNFSF11, CASR, GAL, DMD, OTX2, CASQ2, GRIN2B, TUBB, HRAS, FLNA, AKT1, TUBB3, GNAQ, INPPL1, MYO7A, IGF1R, ATXN1, APOA1, KARS, DCTN1, PINK1, CHRNA4, TWIST1, A2M, SNCA, SLC1A1, HAX1, ACADM, PTEN, F13A1, CIITA, ACVRL1, STAT2, GABRG2, RUNX2, JUP, SLC2A1, KCNQ1, SLC9A1, B2M, STUB1, CHRNE, ATP2A2, CSF1R, NGF, PIK3R2, TGFB1, STXBP1, PTPN11, ATM, AHCY, GNAL, DTNBP1, SPG7, RARS, PLCB1, WAS, PRKACA, INSR, PLG, FADD, TP53, MSH2, DNMT1, TINF2, DRD5, PAK3, ACD, STX11, TRH, APP, CTNS, SOX11, SNAP25, SLC6A1, AP3B1, OCLN, NR3C1, HSPG2, NLRP3, PIK3R1, PDE4D, IRF3, PDGFB

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, CAMURATI-ENGELMANN DISEASE, AORTIC ANEURYSM, FAMILIAL THORACIC 4, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, MICROPHTHALMIA, SYNDROMIC 6, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?SPINOCEREBELLAR ATAXIA 26, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, [NOVELTY SEEKING PERSONALITY], DYSAUTONOMIA, FAMILIAL, CORNELIA DE LANGE SYNDROME 3, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, PSEUDOHYPOPARATHYROIDISM IC, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IA, DIAPHANOSPONDYLODYSOSTOSIS, DYSTONIA 9, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, HOLOPROSENCEPHALY-3, SPINOCEREBELLAR ATAXIA 15, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?SPINOCEREBELLAR ATAXIA 41, NEPHROTIC SYNDROME, TYPE 8, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, 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, HYPOBETALIPOPROTEINEMIA, OPSISMODYSPLASIA, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, SEGAWA SYNDROME, RECESSIVE, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {BLEPHAROSPASM, PRIMARY BENIGN}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, LOEYS-DIETZ SYNDROME 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LEOPARD SYNDROME 3, POLYCYTHEMIA VERA, SOMATIC, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TIMOTHY SYNDROME, CINCA SYNDROME, ALZHEIMER DISEASE-2, ATAXIA-TELANGIECTASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, MENTAL RETARDATION, X-LINKED 21/34, THYROTROPIN-RELEASING HORMONE DEFICIENCY, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MYHRE SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MENTAL RETARDATION, X-LINKED 63, {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, HYPERTHYROIDISM, NONAUTOIMMUNE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, PARKINSON DISEASE 4, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, DIABETES INSIPIDUS, NEPHROGENIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MACROCEPHALY/AUTISM SYNDROME, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MENTAL RETARDATION, X-LINKED 30/47, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, TUMOR PREDISPOSITION SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, PARKINSON DISEASE, JUVENILE, TYPE 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, 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, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, 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, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, MPDZ, CAV1, APOB, HSPB1, APOE, TH, GNAS, EFTUD2, ITGB3, AGT, CDK5, DRD4, NLRP12, B2M, HADH, BMP4, PROK2, BMPER, WNK1, ACSL4, NF1, ARHGDIA, SMAD4, GHSR, GNAI2, BAP1, SF3B4, PTEN, PCNA, IL1RAPL1, DRD2, ERBB3, PDE8B, NOTCH1, TNF, MTOR, LEP, ATP2A2, ABCA1, JAK2, IL10, IKBKAP, CCND1, PTH, PER2, AVPR2, TGFBR1, EP300, HSPD1, EEF2, ZBTB16, BDNF, ACVR1, BRAF, INS, ABCC8, SMC3, GCK, POLR1C, KCNJ11, ITPR1, IGF1, DVL3, PAX2, NDUFAF2, CASR, CTSD, GRIN2B, AKT1, TUBB3, INPPL1, DRD3, ATXN1, TRPC3, TP53, ADRA2B, KIF11, CCL2, SNCA, TSHR, STXBP1, IL1RN, APOA1, SLC2A1, KCNQ1, MYH11, NGF, TUBG1, CHRNE, ALB, TGFB1, PTPN11, ATM, SPG7, NLRP3, CACNA1C, PARK2, KCNJ8, NOS3, DNMT1, DRD5, PAK3, STX11, TRH, APP, GRM1, SNAP25, HRAS, HTRA1, NR3C1, HSPG2, ESR1, ATIC, SHH

{CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, 46XY SEX REVERSAL 9, MICROPHTHALMIA, SYNDROMIC 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, JOUBERT SYNDROME 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CARASIL SYNDROME, DANON DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SPINOCEREBELLAR ATAXIA 15, HOLOPROSENCEPHALY-4, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, IMMUNODEFICIENCY 44, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, LOEYS-DIETZ SYNDROME 1, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, CARPAL TUNNEL SYNDROME, FAMILIAL, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ADAMS-OLIVER SYNDROME 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRAGILE X SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, ?MENTAL RETARDATION, X-LINKED 100, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, OSTEOGENESIS IMPERFECTA, TYPE XVII, NOONAN SYNDROME 7, CROUZON SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, CHEDIAK-HIGASHI SYNDROME, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2, HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MELNICK-NEEDLES SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, ACROCAPITOFEMORAL DYSPLASIA, LEOPARD SYNDROME 3, STORMORKEN SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ALZHEIMER DISEASE, TYPE 4, PSEUDOPSEUDOHYPOPARATHYROIDISM, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, NOONAN SYNDROME 9, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, ?SPINOCEREBELLAR ATAXIA 41, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, RHEUMATOID ARTHRITIS, 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, AMYLOIDOSIS, FINNISH TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, FRAXE, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OPSISMODYSPLASIA, MYOPATHY, TUBULAR AGGREGATE, 2, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PICK DISEASE, ?IMMUNODEFICIENCY 45, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, FRAGILE X TREMOR/ATAXIA SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BECKER MUSCULAR DYSTROPHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 17, OSTEOGENESIS IMPERFECTA, TYPE III, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, MENTAL RETARDATION, X-LINKED 19, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ERYTHROCYTOSIS, FAMILIAL, 2, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, COMPLEMENT FACTOR I DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, HYPOBETALIPOPROTEINEMIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAPOS SYNDROME, GRISCELLI SYNDROME, TYPE 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, NEUROCUTANEOUS MELANOSIS, SOMATIC, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, 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, DEJERINE-SOTTAS DISEASE, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MOYAMOYA 6 WITH ACHALASIA, HOLOPROSENCEPHALY-3, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARKINSON DISEASE 1, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, FRONTOMETAPHYSEAL DYSPLASIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, KRABBE DISEASE, ATYPICAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, COMBINED SAP DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, POLYCYTHEMIA VERA, SOMATIC, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ALCOHOL DEPENDENCE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, TANGIER DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, NASU-HAKOLA DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MEIER-GORLIN SYNDROME 4, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PHYTANIC ACID STORAGE DISEASE, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, MYHRE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, 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, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SPINOCEREBELLAR ATAXIA 5, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, GLUCOCORTICOID RESISTANCE, COLE-CARPENTER SYNDROME 1, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], GILLESPIE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, STROMME SYNDROME, GLYCOGEN STORAGE DISEASE XII, TRIGONOCEPHALY 1, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, OCULODENTODIGITAL DYSPLASIA, PERRY SYNDROME, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, DYSTONIA-12, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, ?BARDET-BIEDL SYNDROME 11, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE-2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, SED CONGENITA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DARIER DISEASE, {PARKINSON DISEASE 18}, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPATHY, NEONATAL SEVERE, CHOROID PLEXUS PAPILLOMA, MYOPATHY, MYOFIBRILLAR, 6, ANGIOEDEMA, HEREDITARY, TYPES I AND II, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, ?MYOPATHY, SCAPULOHUMEROPERONEAL, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2

CALM1, SOD1, ADRA2B, CAV1, HBB, FGFR1, APOB, CD244, HSPB1, APOE, ATP2B3, PRKACA, ACTB, GNA11, STIM1, GNAS, IKBKG, CDT1, PSEN1, ALDOA, NGF, F2, MAG, AGT, A2M, MYO5A, LEP, PDE11A, SPARC, SOX2, CASR, KDM1A, SNCA, IGF2, ALB, ITGA2B, MFN2, FGA, B2M, COL18A1, COL6A1, CDKN2A, NPHP1, CBL, P4HB, EGR2, ITGA3, BMP4, RAB7A, COL2A1, SPTAN1, COL1A1, DNM2, DES, PIK3CA, TRIM32, PTPN11, PRF1, PRKCH, TYROBP, ARHGDIA, PDGFRB, SMAD4, ADCY6, TGIF1, GNAI2, HTR1A, CTNNB1, ATN1, PTEN, ACTA1, DNM1, EDNRA, F5, TGFB2, ACVR1, FBLN5, PHYH, ERBB3, PDE10A, PAX6, NPPA, DRD3, CREBBP, AR, ORAI1, IFNAR2, NOS3, NRAS, DRD4, LAMA1, MPL, PROC, CENPF, MTOR, KIF5A, MMP13, SCARB2, NTRK1, MECP2, TPM1, ABCA1, JAK2, EIF4G1, KIF5C, DOCK6, SMARCE1, GUCY1A3, CCND1, PTH, GNAQ, IFNG, KLC2, PDE3A, HTT, FMR1, SERPING1, TGFBR1, ITPR1, GLUD1, HSPD1, EZH2, RAB27A, TSHR, SLC7A7, TUBA4A, PCNA, HTR2A, F7, RPS6KA3, WAS, BRAF, INS, TRPC3, JAM3, BIN1, DMD, MYD88, GATA1, FCGR2A, TTR, POLR1C, ITGB3, SHH, GJA1, SOX9, KCNMA1, EP300, IGF1, CDK5, VPS45, KIF2A, LYST, HLA-DRB1, TGFB3, ZFPM2, EEF2, CTSD, VHL, COL4A1, PPP2R1A, GRIN2B, F10, FLNA, VPS11, PRKAR1A, AKT1, TUBB3, KRAS, INPPL1, AIP, AKAP10, IGF1R, ATXN1, APOA1, TP53, UBE3A, ATP1A3, SPTBN2, MPDZ, DCTN1, PLAU, IHH, GLI3, KIF11, CSNK1D, ITCH, HAX1, TTN, PRKCG, EFNB1, ERBB4, ABCC8, F13A1, MUSK, PIK3R5, TH, GSN, CIITA, ACVRL1, STAT2, EFEMP2, TUBB4A, GSC, SERPINC1, SH2B3, IRF5, DLG3, UBQLN2, HTRA1, SLC9A1, LYZ, HNRNPK, CD59, IL10, FLNC, PIK3R2, KIF22, DOCK8, CENPE, SOS2, GATA6, NR3C1, TBP, DTNBP1, AP3B1, TGFB1, PCLO, STXBP1, ENTPD1, TP63, MT-CO2, CFI, INSR, NOTCH1, PLG, PDGFB, SOS1, RANBP2, FGFR2, KIF4A, SLC16A1, ATP1A2, TBK1, L1CAM, BDNF, SERPINA1, CLASP1, APP, RET, CTCF, PSAP, SMC3, HRAS, COL1A2, LRP2, LAMP2, CTSA, MYH11, BAG3, ATP2A2, HSPG2, TNF, ESR1, TGFBR2, PIK3R1, PDE4D, SCRIB, SH2D1A, HFE, IRF3, ATIC

BARDET-BIEDL SYNDROME 10, BARAITSER-WINTER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, WEISSENBACHER-ZWEYMULLER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, DONNAI-BARROW SYNDROME, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, HYPERCALCEMIA, INFANTILE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CEROID LIPOFUSCINOSIS, NEURONAL, 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, PSEUDOHYPOPARATHYROIDISM IA, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, BARDET-BIEDL SYNDROME 4, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, FEINGOLD SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, CATSHL SYNDROME, KBG SYNDROME, IMMUNODEFICIENCY 44, SHORT SYNDROME, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, DYSTONIA 9, TUBEROUS SCLEROSIS 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), LEBER CONGENITAL AMAUROSIS 2, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, FUMARASE DEFICIENCY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, KNOBLOCH SYNDROME 1, CORNELIA DE LANGE SYNDROME 4, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, SED CONGENITA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, EIKEN SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, CARPAL TUNNEL SYNDROME, FAMILIAL, TANGIER DISEASE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 8, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SMED STRUDWICK TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PORENCEPHALY 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYPOBETALIPOPROTEINEMIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME 2, PARKINSON DISEASE, JUVENILE, TYPE 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPERPARATHYROIDISM, NEONATAL, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, SOD1, TPP1, APOB, HSPB1, COL1A1, SPTLC1, RAD21, ACTB, GNAS, ACP5, AGT, COL11A2, BBS4, WNT5A, B2M, BBS1, FH, PDGFRB, COL2A1, TGFBR2, ACTA1, SOX9, SMARCA4, APOA1, IGF2, NOS3, MYCN, CCND1, TNF, CORO1A, LEP, KCNJ1, PTH, IFNG, PTH1R, EP300, ANKRD11, INS, CUBN, GATA1, TTR, APP, CTNNB1, IGF1, HLA-DRB1, TNFSF11, CASR, VHL, PPP2R1A, BBS10, BRCA1, AKT1, RPE65, PRKDC, ACACA, ATXN1, TP53, IHH, SNCA, PTEN, FGFR3, STAT2, LYZ, RUNX2, SSR4, CUL4B, SLC2A1, STUB1, ACTG1, NTRK1, CYP24A1, TBP, TGFB1, CASK, PARK2, TCF4, THRA, COL4A2, RAB7A, COL18A1, LRP2, ALB, ESR1, HFE, MTOR, PIK3R1

{ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PELGER-HUET ANOMALY, CAMURATI-ENGELMANN DISEASE, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, BARDET-BIEDL SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, LAMB-SHAFFER SYNDROME, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, SPINOCEREBELLAR ATAXIA 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PARKINSON DISEASE 1, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ENCEPHALOPATHY, NEONATAL SEVERE, ANGELMAN SYNDROME, DYSTONIA-11, MYOCLONIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, AMYLOIDOSIS, FINNISH TYPE, PERRAULT SYNDROME 5, NICOLAIDES-BARAITSER SYNDROME, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CHOROID PLEXUS PAPILLOMA, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

ACTA1, SMARCA2, GRIN2B, PAFAH1B1, NPPA, DRD2, LBR, TGFB1, CHAT, MECP2, SOX5, PPP2R1A, BBS4, AKT1, NGF, PAK3, ATXN1, TP53, RELN, BDNF, APP, SYNGAP1, SNCA, IGF1, GSN, C10orf2, PIK3R1

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ?LICHTENSTEIN-KNORR SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, THANATOPHORIC DYSPLASIA, TYPE I, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, DONNAI-BARROW SYNDROME, 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, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, 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, SPINOCEREBELLAR ATAXIA 14, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CAMURATI-ENGELMANN DISEASE, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, SADDAN, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 11, DIGEORGE SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, HOLOPROSENCEPHALY-3, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SPINOCEREBELLAR ATAXIA 15, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CAPOS SYNDROME, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, CATSHL SYNDROME, VELOCARDIOFACIAL SYNDROME, NOONAN SYNDROME 9, SHORT SYNDROME, ANGELMAN SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MICROPHTHALMIA, SYNDROMIC 6, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, DYSTONIA-12, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERTENSION AND BRACHYDACTYLY SYNDROME, PROTEUS SYNDROME, SOMATIC, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, 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}, WAARDENBURG SYNDROME, TYPE 1, {PARKINSON DISEASE 18}, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {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, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AMYOTROPHIC LATERAL SCLEROSIS 19, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DIABETES INSIPIDUS, NEPHROGENIC, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, NOONAN SYNDROME 7, CROUZON SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, LEOPARD SYNDROME 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

CALM1, TSC2, TUBA4A, GNAS, KRIT1, AGT, GFAP, OTX2, PRKAR1A, CSNK1D, UBB, NOG, FGF3, ERBB4, CLASP1, PIK3CA, BMP4, PDGFRB, CREBBP, GNAI2, TGFBR2, ACTA1, ACE, TGFB2, KRAS, ERBB3, IL10, MAP2K2, ADCY6, IGF2, NOTCH1, TNF, MTOR, FGFR1, MEF2C, MMP13, LEP, FGF17, EIF4G1, CBL, SMARCE1, WWOX, CCND1, PTH, PDE3A, AVPR2, TGFBR1, EP300, ROR2, T, GSC, NDST1, RPS6KA3, DUSP6, TBX1, INS, PDGFB, SOS2, APP, SHOC2, ITPR1, IGF1, PAX2, CASR, DMD, SOX9, PPP2R1A, GRIN2B, TUBB, FGF20, PLK4, AKT1, CCND2, SLC9A1, TUBB2A, VDR, DRD3, APOA1, TP53, UBE3A, ATP1A3, CCL2, SNCA, PRKCG, PTEN, FGFR3, RUNX2, NRAS, KRT8, PAX3, CSF1R, PIK3R2, TGFB1, PTPN11, FIBP, PRKACA, INSR, NOS3, ADCY5, SOS1, CEP57, CPS1, DNMT1, FGFR2, BRAF, PAK3, PDGFRA, BDNF, POLR1C, HRAS, LRP2, ATXN3, HSPG2, ESR1, PIK3R1, SHH

SUPRANUCLEAR PALSY, PROGRESSIVE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, {PARKINSON DISEASE 8}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DEAFNESS, AUTOSOMAL DOMINANT 11, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CAMURATI-ENGELMANN DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, WARSAW BREAKAGE SYNDROME, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, RAPADILINO SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, INCONTINENTIA PIGMENTI, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, SPINOCEREBELLAR ATAXIA 15, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, MENTAL RETARDATION, X-LINKED 102, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, LEBER OPTIC ATROPHY, RHEUMATOID ARTHRITIS, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ACETYL-COA CARBOXYLASE DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, CARPENTER SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, NEUROFIBROMATOSIS, TYPE 1, HEIMLER SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, LISSENCEPHALY 6, WITH MICROCEPHALY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, NOONAN SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ?JOUBERT SYNDROME 22, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, MIRROR MOVEMENTS 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?MECKEL SYNDROME 12, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, {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, ?AL-GAZALI-BAKALINOVA SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MALONYL-COA DECARBOXYLASE DEFICIENCY, HYPERLYSINEMIA, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CRANIOSYNOSTOSIS, TYPE 2, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, SACCHAROPINURIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, KARTAGENER SYNDROME, NOONAN SYNDROME 7, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PICK DISEASE, XERODERMA PIGMENTOSUM, GROUP B, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2, HETEROTOPIA, PERIVENTRICULAR, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?SPINOCEREBELLAR ATAXIA 26, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AMINOACYLASE 1 DEFICIENCY, MEIER-GORLIN SYNDROME 1, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, {AUTISM, SUSCEPTIBILITY TO, 18}, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MULIBREY NANISM, KENNY-CAFFEY SYNDROME, TYPE 1, NOONAN SYNDROME 9, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, COFFIN-SIRIS SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, BEHR SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, FANCONI ANEMIA, COMPLEMENTATION GROUP C, NOONAN SYNDROME 8, MENTAL RETARDATION, X-LINKED 30/47, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, OPTIC ATROPHY PLUS SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, PARKINSON DISEASE, JUVENILE, TYPE 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ?HYDROLETHALUS SYNDROME 2, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, SPINOCEREBELLAR ATAXIA 17, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, NIEMANN-PICK DISEASE TYPE C1, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKODYSTROPHY, HYPOMYELINATING, 9, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LIPOYLTRANSFERASE 1 DEFICIENCY, LESCH-NYHAN SYNDROME, AICARDI-GOUTIERES SYNDROME 6, DYSTONIA-1, TORSION, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, TUMOR PREDISPOSITION SYNDROME, GRISCELLI SYNDROME, TYPE 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, XERODERMA PIGMENTOSUM, GROUP D, CEROID LIPOFUSCINOSIS, NEURONAL, 10, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, WARBURG MICRO SYNDROME 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, REVESZ SYNDROME, USHER SYNDROME, TYPE 1B, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, COCKAYNE SYNDROME, TYPE B, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, 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, MYOTUBULAR MYOPATHY, X-LINKED, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ?BARDET-BIEDL SYNDROME 19, AMYOTROPHY, HEREDITARY NEURALGIC, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2B, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, GALACTOSEMIA, ?MENTAL RETARDATION, X-LINKED 100, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, PEROXISOME BIOGENESIS DISORDER 4B, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, LISSENCEPHALY 3, POLYCYTHEMIA VERA, SOMATIC, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, BURN-MCKEOWN SYNDROME, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, TANGIER DISEASE, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MEIER-GORLIN SYNDROME 4, ?N SYNDROME, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?SECKEL SYNDROME 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, WATSON SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, AICARDI-GOUTIERES SYNDROME 5, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 12, PALLISTER-HALL SYNDROME, BONE MARROW FAILURE SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, FRASER SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SHORT SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, GLUCOCORTICOID RESISTANCE, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, BARAITSER-WINTER SYNDROME 2, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, PERRY SYNDROME, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, CORPUS CALLOSUM AGENESIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, XERODERMA PIGMENTOSUM, TYPE 1, MACROCEPHALY/AUTISM SYNDROME, NEUROFIBROMATOSIS, TYPE 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHOROID PLEXUS PAPILLOMA, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, CODAS SYNDROME, PARIETAL FORAMINA 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATASIA, CHILDHOOD, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, WISKOTT-ALDRICH SYNDROME, SPINAL MUSCULAR ATROPHY-1, {ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DEAFNESS, AUTOSOMAL RECESSIVE 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, 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, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2

DNAJC5, CALM1, TSC2, ERCC6L2, PEX14, MLYCD, CAV1, SQSTM1, PAFAH1B1, PDE4D, NOP56, PRPH, RAD21, ORC1, ACTB, GNA11, KIF1C, PGK1, CAD, IKBKG, CDT1, PEX6, ATL1, AP2S1, MYO7A, MSH6, RAB27A, AGT, KIF11, MYO5A, TUBB, CTNNB1, LRRK2, PIGT, ARHGEF9, CASR, RANBP2, WNK1, UBA1, DNAH5, RECQL4, CA2, MYH14, RYR2, RARS, CRBN, IGHMBP2, GALE, CHD8, ARFGEF2, KIF7, AR, RAB7A, CDC6, DNAH8, DNM2, DES, PIK3CA, TRIM32, GALT, ABCD1, EXOC8, ACY1, ERCC2, ARHGDIA, OCRL, CNBP, MYH3, CYC1, LIPT1, MRE11A, GNAI2, RBPJ, ATL3, KIF1A, NF1, SMARCB1, ACTA1, DNM1, NF2, ATRX, GRIP1, ACVR1, KRAS, APOA1, TUBB2B, TUBA1A, SYN2, KIF4A, XPA, DDX11, PDE8B, GNAS, NOS3, PAXIP1, ERCC3, IRF5, MAPT, FANCC, MYD88, RYR1, MLH1, KIF5A, TAF6, BCAP31, PDE3A, GFM1, GNAO1, PDE11A, ABCA1, JAK2, EXOSC8, KIF5C, MEGF10, STXBP1, CCND1, ABCB7, TPM2, EFTUD2, TNNT1, NRAS, DNM1L, GPX4, TGFBR1, ITPR1, HDAC6, TAF1, HSPD1, DYNC2H1, SAMHD1, GTPBP3, TECR, TUBGCP4, ALPL, ABCD4, SYN1, FANCA, PPP2R2B, MFN2, RAB18, PCNA, RPS6KA3, GLUD1, CENPE, BRAF, INS, ABCC8, SNAP25, SEPT9, SOS2, TUBA8, FLNC, DDX3X, NT5C2, KIF14, SMARCA2, MT-ATP6, AP4M1, SMAD4, CDK5, EEF1A2, CLASP1, CBS, PEX19, KIF2A, HPRT1, ITPA, HLA-DRB1, TXNL4A, GMPPB, CCNO, EEF2, CTDP1, ERCC5, CTSD, VHL, KIF1B, PEX5, GRIN2B, SMARCAL1, FLNA, MTOR, PRKAR1A, AKT1, TUBB3, GNAQ, TUBB2A, VDR, HACE1, ACACA, ASCL1, KATNB1, RAD51, PARK2, ABCA7, UQCRC2, AASS, SEC63, ATP5A1, SSR4, MPDZ, DCTN1, ABCC6, DNA2, VPS33B, IFNG, A2M, EIF2B2, CSNK1D, DNAH1, TINF2, HAX1, UBQLN2, OGDH, PTEN, NPC1, XPC, ATP13A2, TNNT2, DDOST, EIF4A3, TUBB4A, DYNC1H1, ERCC6, ADAR, POLR3B, POLA1, PRKDC, PEX1, KIF21A, NME1, DLG3, MSH2, SMARCA4, PCBD1, NGF, HINT1, B2M, TUBG1, PAX3, ACTG1, ATR, EIF2B1, PIK3R2, TNF, KIF22, NONO, ENTPD1, MSX2, ATM, DARS, TBP, VCP, AP3B1, IFT27, TGFB1, SPTLC1, CIITA, DISC1, WAS, TBCE, INSR, PTPN11, SOS1, LONP1, TUBA4A, TP53, BLM, PDE10A, SPAST, ATXN2, UBE3A, PAK3, ABCC9, GNAL, PMS2, RTEL1, OPA1, TOR1A, PDE6D, APP, RIT1, PNP, SMC3, HRAS, LAMA2, DCC, CDK5RAP2, DNAJC3, GLUL, NHP2, VPS45, NR3C1, SAR1B, ESR1, ITGB3, BAP1, TRIM37, GCH1, TUFM, KRIT1, RAB23, CASK, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, BECKWITH-WIEDEMANN SYNDROME, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, 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, 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}, 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, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HOLOPROSENCEPHALY-7, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, CARASIL SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, GILLESPIE SYNDROME, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, 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, HYPOPHOSPHATASIA, INFANTILE, PORENCEPHALY 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 28, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, ULNAR-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, PITT-HOPKINS SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RETT SYNDROME, CONGENITAL VARIANT, PSEUDOHYPOPARATHYROIDISM IA, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SADDAN, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?OSTEOGENESIS IMPERFECTA, TYPE XII, MEND SYNDROME, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), LANGER MESOMELIC DYSPLASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, SPINOCEREBELLAR ATAXIA 36, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, FRANK-TER HAAR SYNDROME, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, ADAMS-OLIVER SYNDROME 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COFFIN-SIRIS SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {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, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, HOLOPROSENCEPHALY-2, OCULOECTODERMAL SYNDROME, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PRADER-WILLI SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 19, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SYMPHALANGISM, PROXIMAL, 1A, CHOROID PLEXUS PAPILLOMA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, ?IMMUNODEFICIENCY 37, ?OTOFACIOCERVICAL SYNDROME 2, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, KNOBLOCH SYNDROME 1, HOLOPROSENCEPHALY-9, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, EXOSTOSES, MULTIPLE, TYPE 1, PICK DISEASE, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CRANIOMETAPHYSEAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, SED CONGENITA, CLOVE SYNDROME, SOMATIC, RAINE SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, EIKEN SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, CARPAL TUNNEL SYNDROME, FAMILIAL, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, NICOLAIDES-BARAITSER SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, WAARDENBURG SYNDROME, TYPE 1, ELLIS-VAN CREVELD SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FRONTONASAL DYSPLASIA 2, HYPOCHONDROPLASIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ACROCAPITOFEMORAL DYSPLASIA, ALZHEIMER DISEASE, TYPE 4, 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, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, IMAGE SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 11, SMITH-MAGENIS SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CRANIOSYNOSTOSIS, TYPE 2, WOLCOTT-RALLISON SYNDROME, ALEXANDER DISEASE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, SMED STRUDWICK TYPE, HYPOPHOSPHATASIA, CHILDHOOD, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MYHRE SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MISMATCH REPAIR CANCER SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ERYTHROCYTOSIS, FAMILIAL, 2, MACROCEPHALY/AUTISM SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, OSTEOGENESIS IMPERFECTA, TYPE XV, MARFAN LIPODYSTROPHY SYNDROME, PALLISTER-HALL SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, CHONDRODYSPLASIA, GREBE TYPE, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, RUBINSTEIN-TAYBI SYNDROME 2, IRIS HYPOPLASIA AND GLAUCOMA, IRIDOGONIODYSGENESIS, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, HOLOPROSENCEPHALY-5, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, PARIETAL FORAMINA 1, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, LOEYS-DIETZ SYNDROME 1, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, WAARDENBURG SYNDROME, TYPE 4C, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, F2, WNT5A, FOXC1, COL1A1, ICK, SALL1, ACTB, TAPT1, GRN, GLI3, RAI1, EBP, ST3GAL3, AGT, COL11A2, CTNNB1, COL5A1, SOX2, GJA1, SOX10, ARSE, NOG, FGF3, SIX3, SMARCA4, NOP56, PIK3CA, SMARCA2, BMP4, PAX1, BMPER, JAG1, AFG3L2, ATN1, TNFRSF11B, IGF1, CREBBP, COL2A1, RBPJ, SF3B4, GLI2, EVC, WNT7A, ACP2, CHD7, KRAS, HOXB1, PAX6, NKX2-5, SP7, IGF2, GNAS, NOS3, MYCN, SMARCB1, BUB1B, MTOR, FGFR1, MEF2C, PSEN1, CPOX, COMP, MSX2, CCND1, PTH, PER2, SERPINI1, JUP, SPARC, TGFBR1, EP300, T, MAG, ZBTB16, GSC, GDF5, RPS6KA3, TP63, DDR2, DEAF1, INS, GFAP, PAX8, PTCH1, FAM20C, TTR, COL18A1, ALPL, GNA11, BMP1, SOX9, SUFU, SMAD4, EXT1, ZIC2, PAX2, INSR, PTH1R, YAP1, VHL, ANKH, COL4A1, PPP2R1A, HES7, NDN, AKT1, GNAQ, VDR, SHOX, IGF1R, ATXN1, TP53, FBN1, SH3PXD2B, PLAU, IHH, COL1A2, FBN2, CDKN1C, PTEN, TBX3, FGFR3, NPPA, RYR2, RUNX2, PRKDC, FLNA, NGF, PAX3, FOXG1, TGFB1, COL5A2, GATA6, VCP, EIF2AK3, BCL10, HEXB, GLUD1, TCF4, TRPS1, NOTCH1, PLG, MSH2, DNMT1, ALX4, GAS1, WNT1, CACNA1S, SLC35A3, GPC3, SOX11, HRAS, COQ6, SPG7, HTRA1, TERT, HSPG2, TNF, MC4R, ARSB, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, LOEYS-DIETZ SYNDROME 1, MICROPHTHALMIA, SYNDROMIC 6, FEINGOLD SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, KEUTEL SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CAMURATI-ENGELMANN DISEASE, SMED STRUDWICK TYPE, OSTEOGENESIS IMPERFECTA, TYPE XIII, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, LOEYS-DIETZ SYNDROME 4, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HOLOPROSENCEPHALY-3, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, SED CONGENITA, ROBINOW SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2

MYCN, TGFBR1, TGFB2, THRA, MGP, BMP1, SOX9, ACE, CREBBP, COL2A1, ROR2, IGF1, BMP4, WNT7A, EP300, CHAT, WNT5A, TGFB1, CTNNB1, SHH

REVESZ SYNDROME, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, SUPRANUCLEAR PALSY, PROGRESSIVE, CAMURATI-ENGELMANN DISEASE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, 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, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ?SPINOCEREBELLAR ATAXIA 26, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, FRONTOTEMPORAL DEMENTIA, GLYCOGEN STORAGE DISEASE XII, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, PSEUDOHYPOPARATHYROIDISM IA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, PSEUDOPSEUDOHYPOPARATHYROIDISM, PSEUDOHYPOPARATHYROIDISM IC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, COFFIN-LOWRY SYNDROME, OROTIC ACIDURIA, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, MOYAMOYA 6 WITH ACHALASIA, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, AICARDI-GOUTIERES SYNDROME 6, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, LEBER OPTIC ATROPHY, CITRULLINEMIA, ADULT-ONSET TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, ACETYL-COA CARBOXYLASE DEFICIENCY, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, DYSTONIA-12, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HARP SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, BJORNSTAD SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, EVEN-PLUS SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, ARTS SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ALCOHOL DEPENDENCE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, IMMUNODEFICIENCY 23, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, SPINOCEREBELLAR ATAXIA 17, MYASTHENIC SYNDROME, CONGENITAL, 16, LEBER CONGENITAL AMAUROSIS 1, MENTAL RETARDATION, X-LINKED 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, PEROXISOME BIOGENESIS DISORDER 11B, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, DEAFNESS, X-LINKED 5, ?SPASTIC PARAPLEGIA 63, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, LESCH-NYHAN SYNDROME, COWCHOCK SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), MACROCEPHALY/AUTISM SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ?HYDROXYKYNURENINURIA, CAPOS SYNDROME, PICK DISEASE, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, CODAS SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, 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, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

CALM1, MPDZ, SMN2, ADSL, GNAS, DGUOK, CHCHD10, PMM2, ATP1A2, PRKAR1A, WNK1, EIF2B2, NADK2, B2M, NPR2, AR, RRM2B, CREBBP, UMPS, GNAI2, SLC26A2, NPPA, ADCY6, GUCY2D, MPI, MAPT, CAD, PRKAG2, GARS, GFPT1, AIFM1, LONP1, HTT, SLC25A13, HSPD1, DPYD, TSHR, HTR2A, RPS6KA3, ADCY5, NDUFA10, INS, MT-CO1, APP, ALDOA, HPRT1, PRPS1, MT-ATP6, ADAR, KYNU, ITPA, GMPPB, EEF2, BCS1L, AKT1, GALE, ACACA, KARS, PGM3, COX15, AMPD2, COASY, PEX13, HSPA9, PTEN, DDOST, GUCY1A3, ADK, NME1, SEMA3A, TGFB1, PANK2, GMPPA, TBP, CASK, MT-CO2, UQCRC2, SLC35A3, ATP5A1, GRIN2B, PNP, TUFM, ATP1A3, TNF, ATIC, TINF2, DHFR, SURF1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], CAMURATI-ENGELMANN DISEASE, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, GLUTAMINE DEFICIENCY, CONGENITAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, MICROPHTHALMIA, SYNDROMIC 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOTUBULAR MYOPATHY, X-LINKED, DYSTONIA-11, MYOCLONIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT, LISSENCEPHALY 5, EPISODIC ATAXIA, TYPE 2, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PITUITARY ADENOMA, ACTH-SECRETING, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CEROID LIPOFUSCINOSIS, NEURONAL, 8, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, TIMOTHY SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, BRUNNER SYNDROME, SHORT SYNDROME, ANGELMAN SYNDROME, LEBER OPTIC ATROPHY, ALTERNATING HEMIPLEGIA OF CHILDHOOD, 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, PITT-HOPKINS-LIKE SYNDROME 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SPINOCEREBELLAR ATAXIA 6, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MEDNIK SYNDROME, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GRISCELLI SYNDROME, TYPE 1, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, MYASTHENIC SYNDROME, CONGENITAL, 5, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ALCOHOL DEPENDENCE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYPEREKPLEXIA 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, EPISODIC ATAXIA, TYPE 6, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, ?MYASTHENIC SYNDROME, CONGENITAL, 18, 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}, GABA-TRANSAMINASE DEFICIENCY, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, CHOROID PLEXUS PAPILLOMA, ?DYSTONIA 23, COLE-CARPENTER SYNDROME 2, GALACTOSE EPIMERASE DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, BLOOM SYNDROME, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, CEROID LIPOFUSCINOSIS, NEURONAL, 3, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MYOCLONIC-ATONIC EPILEPSY, {PANIC DISORDER, SUSCEPTIBILITY TO}, MACROCEPHALY/AUTISM SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, PALLISTER-HALL SYNDROME, PARKINSON DISEASE, JUVENILE, TYPE 2, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, DRD2, WNT7A, PEX14, SYT2, LAMB1, SHH, SQSTM1, MT-CYB, NGF, SEC24D, HNRNPK, GLI3, QDPR, PTEN, APP, DNAJC5, KCNJ10, TGFB1, CACNA1B, COL1A1, NRXN1, MYO5A, SLC6A5, SLC1A3, AGT, CACNA1A, DMD, SLC6A3, PRKACA, CASK, CACNA1C, COLQ, CSNK1D, AKT1, ALDH2, CLN3, SLC5A7, VAMP1, GJA1, GALE, GNAI2, SNCAIP, ATP1A2, PARK2, TP53, SYN1, UBE3A, GLUL, BDNF, DNM1L, TH, DNM2, CHAT, AP1S1, SNAP29, SLC6A1, BMP4, PPT1, GABRA2, SNCA, MAOA, GAD1, ALDH5A1, STXBP1, PCBD1, MUSK, ADCY6, PARK7, GPHN, CLN8, BLM, SLC6A4, GCH1, SNAP25, SYN2, PAH, ABAT, PIK3R1, COMT

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BASAL CELL NEVUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, ?ACAT2 DEFICIENCY, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP A, [HISTIDINEMIA], PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, ADENYLOSUCCINASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, CEROID LIPOFUSCINOSIS NEURONAL 6, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 6, MUCOPOLYSACCHARIDOSIS IS, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOPHOSPHATASIA, INFANTILE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ?UROCANASE DEFICIENCY, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TRIGONOCEPHALY 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, TYROSINEMIA, TYPE III, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, GLUTAMINE DEFICIENCY, CONGENITAL, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, OROTIC ACIDURIA, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, HMG-COA LYASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, PARKINSON DISEASE 20, EARLY-ONSET, NOONAN SYNDROME 10, ?WAISMAN SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, SULFITE OXIDASE DEFICIENCY, LIPOYLTRANSFERASE 1 DEFICIENCY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, GLYCINE ENCEPHALOPATHY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, NEPHROTIC SYNDROME, TYPE 8, COFFIN-SIRIS SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LEBER OPTIC ATROPHY, STRIATONIGRAL DEGENERATION, INFANTILE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PYRUVATE CARBOXYLASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, LEOPARD SYNDROME 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, LATHOSTEROLOSIS, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, COENZYME Q10 DEFICIENCY, PRIMARY, 3, ARGININEMIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, FANCONI ANEMIA, COMPLEMENTATION GROUP C, PERRAULT SYNDROME 1, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, KAHRIZI SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, VITAMIN D-DEPENDENT RICKETS, TYPE I, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, CANAVAN DISEASE, PEROXISOME BIOGENESIS DISORDER 3B, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ALZHEIMER DISEASE-2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPERLYSINEMIA, COFFIN-SIRIS SYNDROME 4, ETHYLMALONIC ENCEPHALOPATHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, METHYLMALONIC ACIDURIA CBLB TYPE, ALCOHOL DEPENDENCE, GLYCEROL KINASE DEFICIENCY, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), MUSCULAR DYSTROPHY, CONGENITAL, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MACROCEPHALY/AUTISM SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, NIEMANN-PICK DISEASE, TYPE B, CARPAL TUNNEL SYNDROME, FAMILIAL, GLUTARICACIDURIA, TYPE I, NICOLAIDES-BARAITSER SYNDROME, {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}, ALAGILLE SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GABA-TRANSAMINASE DEFICIENCY, HYPERPROLINEMIA, TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, TYROSINEMIA, TYPE I, GALACTOSE EPIMERASE DEFICIENCY, CYSTATHIONINURIA, PEROXISOME BIOGENESIS DISORDER 11B, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EPILEPSY, PYRIDOXINE-DEPENDENT, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 72, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ASPARAGINE SYNTHETASE DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE II, ERYTHROCYTOSIS, FAMILIAL, 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SACCHAROPINURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, HYPOPHOSPHATASIA, CHILDHOOD, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, HYPERPROLINEMIA, TYPE I, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, HYPOBETALIPOPROTEINEMIA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, TYROSINEMIA, TYPE II, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ?HYDROXYKYNURENINURIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, 2-METHYLBUTYRYLGLYCINURIA, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CPT II DEFICIENCY, LETHAL NEONATAL, ISOVALERIC ACIDEMIA, DYSAUTONOMIA, FAMILIAL, 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, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, APOE, PEX14, CAV1, AMACR, APOB, MPDZ, PRPH, ACADS, SRD5A3, GPT2, SUOX, CTH, AGT, PCCB, ACAT1, RAB39B, CDK5, PEX13, HIBCH, PHYH, MCCC2, CTNNB1, RYR2, HADH, IBA57, ASPM, SPTAN1, SUFU, DES, ABCD1, HAL, ACADSB, JAG1, DLD, PEX2, SMAD4, MTMR2, INPP5E, AUH, ARHGDIA, UMPS, LIPT1, ABHD12, IKBKAP, ACOX1, ETFDH, MMAA, SMARCA2, ACADM, SMARCA4, UROC1, PLAU, LZTR1, NOS3, ALDH7A1, GLUL, LMNB1, CCND1, TNF, MTOR, FGFR1, ALDH6A1, COQ6, LEP, LMNA, AKT2, ABAT, AGXT, ALDH2, HADHA, SCP2, BCKDHA, GK, NR1I3, PTH, IFNG, PNPLA8, JUP, EEF1A2, EP300, RAD51, HSPD1, GCDH, MT-CYB, BCKDHB, GAD1, ALDH5A1, PCBD1, ACADVL, CYP24A1, GLUD1, NUP62, INS, PAM16, CTSD, TUFM, QARS, TTR, ALPL, DAO, NT5C2, SMPD1, ETFA, ALDH4A1, FTCD, HSD17B10, ETHE1, KYNU, CBS, CPT1C, PRODH, CYP27B1, SC5D, EEF2, ARG1, VHL, GLDC, PPP2R1A, HMGCL, AKT1, CPT2, GALE, VDR, ADSL, BRCA1, MUT, TP53, AASS, TUBGCP4, NEFL, ARL6IP1, ACAT2, DBT, CCL2, UBQLN2, MCCC1, FANCA, OGDH, PTEN, ECHS1, QDPR, GSN, IDUA, PAH, FAH, OTC, TAT, ASNS, SMARCB1, PDSS2, HCCS, INPPL1, ALB, HSD17B4, ASL, PTPN11, PEX12, AHCY, DARS, HPD, HADHB, ESR1, MT-CO2, SYNJ1, PCCA, UQCRC2, CPS1, GLUD2, CPT1A, FANCC, PCNA, AMT, PEX19, DHFR, ASPA, GCSH, IVD, HDC, NR3C1, CAD, PEX7, EPM2A, PC, PEX5, PIK3R1

BARAITSER-WINTER SYNDROME 1, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, SUPRANUCLEAR PALSY, PROGRESSIVE, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, USHER SYNDROME, TYPE 1B, ?MYOPATHY, SCAPULOHUMEROPERONEAL, FRASER SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 102, CAPOS SYNDROME, ADENYLOSUCCINASE DEFICIENCY, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, COCKAYNE SYNDROME, TYPE B, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLUCOCORTICOID RESISTANCE, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, DEAFNESS, AUTOSOMAL DOMINANT 11, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ZIMMERMANN-LABAND SYNDROME 2, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, WATSON SYNDROME, MEIER-GORLIN SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 1, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), CORNELIA DE LANGE SYNDROME 3, FRONTOTEMPORAL DEMENTIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ALEXANDER DISEASE, HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CHOREOACANTHOCYTOSIS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, CORNELIA DE LANGE SYNDROME 1, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, RAPADILINO SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, NIEMANN-PICK DISEASE TYPE C1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PERRY SYNDROME, SPINOCEREBELLAR ATAXIA 15, MISMATCH REPAIR CANCER SYNDROME, PYRUVATE CARBOXYLASE DEFICIENCY, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, PARKINSON DISEASE 4, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PARKINSON DISEASE 1, ?MENTAL RETARDATION, X-LINKED 100, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, ADAMS-OLIVER SYNDROME 3, WARSAW BREAKAGE SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, ROTHMUND-THOMSON SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LEBER OPTIC ATROPHY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, CITRULLINEMIA, ADULT-ONSET TYPE II, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEIER-GORLIN SYNDROME 4, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, RABSON-MENDENHALL SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, PEROXISOME BIOGENESIS DISORDER 4B, NEUROFIBROMATOSIS, TYPE 1, HEIMLER SYNDROME 2, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COFFIN-LOWRY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, LISSENCEPHALY 6, WITH MICROCEPHALY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, COWCHOCK SYNDROME, BJORNSTAD SYNDROME, SPINAL MUSCULAR ATROPHY-1, OROTIC ACIDURIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ARTS SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, FRAGILE X SYNDROME, MIRROR MOVEMENTS 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, BALLER-GEROLD SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, ?DYSTONIA, JUVENILE-ONSET, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?MECKEL SYNDROME 12, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, {AUTISM, SUSCEPTIBILITY TO, 18}, FRAGILE X TREMOR/ATAXIA SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, XERODERMA PIGMENTOSUM, GROUP B, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, MACROCEPHALY/AUTISM SYNDROME, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MYOTONIC DYSTROPHY 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, TANGIER DISEASE, NICOLAIDES-BARAITSER SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, BARAITSER-WINTER SYNDROME 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, ?HYDROLETHALUS SYNDROME 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, SPINOCEREBELLAR ATAXIA 17, MYASTHENIC SYNDROME, CONGENITAL, 16, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 19, LISSENCEPHALY 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, IMAGE SYNDROME, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, PEROXISOME BIOGENESIS DISORDER 11B, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, PARIETAL FORAMINA 1, POLYCYSTIC LIVER DISEASE, DE SANCTIS-CACCHIONE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENKES DISEASE, BLOOM SYNDROME, CORPUS CALLOSUM AGENESIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CRANIOSYNOSTOSIS, TYPE 2, DEAFNESS, X-LINKED 5, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SECKEL SYNDROME 1, ?SPASTIC PARAPLEGIA 63, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 9, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATASIA, CHILDHOOD, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LIPOYLTRANSFERASE 1 DEFICIENCY, DYSTONIA-PARKINSONISM, X-LINKED, LESCH-NYHAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, KARTAGENER SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, XERODERMA PIGMENTOSUM, TYPE 1, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA-1, TORSION, SPINOCEREBELLAR ATAXIA 12, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, ?SECKEL SYNDROME 8, PICK DISEASE, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, BONE MARROW FAILURE SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, DYSTONIA-12, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CODAS SYNDROME, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, DEAFNESS, AUTOSOMAL RECESSIVE 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, XERODERMA PIGMENTOSUM, GROUP D, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PEROXISOME BIOGENESIS DISORDER 2B, 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-HYPOTONIC FACIES SYNDROME, X-LINKED, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, PROTEUS SYNDROME, SOMATIC

CALM1, MPDZ, PEX14, TOR1A, MSH6, PAFAH1B1, PRPH, ORC1, ACTB, KIF1C, PGK1, PEX6, AP2S1, MYO7A, ALDOA, MLH1, HAX1, ATP1A2, RANBP2, ABCD1, DNAH5, RECQL4, MYH14, EIF4A3, RARS, IGHMBP2, CHD8, KIF7, KIF1B, PEX13, ERCC6, DNAH8, DES, CDT1, WNK1, HSPA9, ERCC2, ABCA1, SPAST, CNBP, CYC1, UMPS, LIPT1, MRE11A, DYNC2H1, KIF1A, NF1, ACTA1, AIFM1, SMARCA2, ATRX, GRIP1, SMARCA4, APOA1, MEGF10, TUBA1A, KIF4A, AR, LONP1, NOS3, PAXIP1, ERCC3, MAPT, CAD, KIF5A, PRKAG2, CASK, TAF6, BCAP31, GFPT1, EXOSC8, KIF5C, TUBB2B, DDX11, CCND1, ABCB7, CHCHD10, TNNT1, KIF2A, SLC25A13, FMR1, FANCC, TUBG1, ITPR1, GMPPB, TAF1, HSPD1, RBPJ, DPYD, MT-CYB, ALPL, ABCD4, ATP6V1B2, FANCA, TNNT2, TUBA4A, AVPR2, XPA, CTNS, RPS6KA3, COL4A3BP, GLUD1, INS, SMC3, GFAP, MT-CO1, TUFM, DDX3X, HPRT1, PRPS1, MT-ATP6, CTNNB1, MYH3, CLASP1, RAD51, SNIP1, HDAC6, CTDP1, F5, TUBB, BCS1L, PPP2R1A, SMARCAL1, PMPCA, BRCA1, AKT1, TUBB3, GALE, PRKDC, ADSL, KATNB1, VCP, ABCA7, TP53, SEC63, CDK5RAP2, ATP5A1, SLC25A4, DCTN1, ABCC6, DNA2, AMPD2, KIF11, EIF2B2, CSNK1D, DNAH1, CDKN1C, UBQLN2, OGDH, ATIC, PTEN, NPC1, XPC, ATP13A2, PPP2R2B, DDOST, DYNC1H1, ADK, POLR3B, PEX1, ATXN2, CRBN, MSH2, NDUFS1, VPS13A, ACTG1, NR3C1, ERCC6L2, KIF14, TNF, KIF22, LAMA2, ENTPD1, MSX2, ATM, DARS, TBP, ATP7A, TGFB1, SPTLC1, DISC1, MT-CO2, FXN, INSR, CENPE, AKT3, UQCRC2, BLM, ABCC9, PMS2, RTEL1, PCNA, ATP1A3, GRIN2B, PEX19, ABCC8, KIF21A, ACO2, SNCA, DNAJC3, EPOR, ATR, NHP2, ESR1, PIK3R1, UQCRB, PC, PEX5, SURF1

STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, BARAITSER-WINTER SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PAROXYSMAL EXTREME PAIN DISORDER, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, FEBRILE SEIZURES, FAMILIAL, 3B, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 7, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HOLOPROSENCEPHALY 11, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, CEROID LIPOFUSCINOSIS, NEURONAL, 3, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DUCHENNE MUSCULAR DYSTROPHY, BECKER MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, EPISODIC PAIN SYNDROME, FAMILIAL, 3, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, EPISODIC PAIN SYNDROME, FAMILIAL, 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, ANDERSEN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 16, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, DARIER DISEASE, TIMOTHY SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, MASA SYNDROME, CRASH SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, OCULODENTODIGITAL DYSPLASIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

CALM1, KIF5C, SCN2A, SCN4A, KCNQ1, KIF5A, KCNMA1, SCN1A, MYH14, GRIK2, ACTB, NGF, GNAS, NOS3, SCN5A, ANK2, ANK3, SCN1B, GRIN2B, DMD, GNA11, GPHN, PRKACA, CACNA1C, CHRNA1, APP, KCNE2, SCN9A, SCN4B, CNTN2, RYR2, KCNE1, DSP, SCN10A, GNAQ, SCN11A, JUP, L1CAM, CHRNA4, GLRA1, DES, DSG2, KCNJ2, SCN8A, GJA1, ITGA7, KCNQ2, KCNH2, MUSK, ATP2A2, CLN3, GNAI2, INS, CDON, SNTA1

BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ?LICHTENSTEIN-KNORR SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, SENIOR-LOKEN SYNDROME 6, DONNAI-BARROW SYNDROME, 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, PARKINSON DISEASE 1, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, GLANZMANN THROMBASTHENIA, DYSTONIA-11, MYOCLONIC, AMYOTROPHIC LATERAL SCLEROSIS 19, GILLESPIE 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, DEJERINE-SOTTAS DISEASE, FRONTOTEMPORAL DEMENTIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IA, DIAPHANOSPONDYLODYSOSTOSIS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, HARTSFIELD SYNDROME, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, HOLOPROSENCEPHALY-9, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SPINOCEREBELLAR ATAXIA 15, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, FRONTOMETAPHYSEAL DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, MECKEL SYNDROME 4, JOUBERT SYNDROME 5, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ?SPINOCEREBELLAR ATAXIA 41, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, {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, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, DYSTONIA 9, TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LOEYS-DIETZ SYNDROME 1, CULLER-JONES SYNDROME, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, FUMARASE DEFICIENCY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ALZHEIMER DISEASE-2, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, OTOPALATODIGITAL SYNDROME, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COFFIN-SIRIS SYNDROME 4, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, WARBURG MICRO SYNDROME 4, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ALCOHOL DEPENDENCE, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, SED CONGENITA, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?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}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, WISKOTT-ALDRICH SYNDROME, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, ?MYASTHENIC SYNDROME, CONGENITAL, 18, 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, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, OHDO SYNDROME, X-LINKED, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, INCONTINENTIA PIGMENTI, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, SMED STRUDWICK TYPE, LUJAN-FRYNS SYNDROME, HETEROTOPIA, PERIVENTRICULAR, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF DEGLYCOSYLATION, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CRANIOSYNOSTOSIS 6, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PICK DISEASE, FACTOR XIIIA DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PALLISTER-HALL SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, SMITH-KINGSMORE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, DRD2, APOE, CAV1, GJB1, FGFR1, APOB, MPDZ, NGLY1, ACTB, GNAS, IKBKG, PSEN1, SORL1, KRIT1, AGT, ZIC1, ASCC1, PRKAR1A, SNCA, EIF2B2, SMN2, BTK, EGR2, FH, DACT1, PROK2, SMARCA4, MLC1, BMP4, BMPER, EMD, SMAD4, MTMR2, MYH3, TBK1, GNAI2, SF3B4, PTEN, VRK1, SCP2, SOX2, TRPC3, GLI2, PAX6, ADCY6, AR, NOS3, TNF, MYD88, MTOR, EDNRA, LEP, AKT2, JAK2, SLC9A1, IL10, COL2A1, CCND1, PTH, IFNG, JUP, LRP5, HTT, DNM1L, EEF1A2, ITPR1, F2, HSPD1, WWOX, CASR, PCNA, HTR2A, WAS, INS, SNAP25, MED12, TGFBR1, ITGB3, GJA1, SOX9, IGF1, CDK5, DVL3, CEP290, TGFB3, SLC2A1, SYN1, TBC1D20, VHL, PPP2R1A, GRIN2B, BRCA1, AKT1, CCND2, KCNMA1, PRKDC, WNT5A, IGF1R, ATXN1, HTR1A, TP53, MED17, EZH2, GLI3, ITGA2B, CSNK1D, RPS19, TUBB3, ERBB4, F13A1, NLRP12, RUNX2, VDR, FLNA, NGF, HNRNPK, EIF2B1, TGFB1, PDE4D, AP3B1, PRKACA, INSR, PCNT, UQCRC2, RBCK1, DNMT1, TNFSF11, ANK3, BDNF, TRH, APP, GRM1, HRAS, LRP2, ATP2A2, ESR1, PIK3R1, CCL2, SHH

BARAITSER-WINTER SYNDROME 1, SUPRANUCLEAR PALSY, PROGRESSIVE, USHER SYNDROME, TYPE 1B, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, DEAFNESS, AUTOSOMAL RECESSIVE 9, AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, MIRROR MOVEMENTS 1, WAARDENBURG SYNDROME, TYPE 1, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, NEPHRONOPHTHISIS 18, DEAFNESS, AUTOSOMAL DOMINANT 11, COLE-CARPENTER SYNDROME 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, BARDET-BIEDL SYNDROME 6, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, WARBURG MICRO SYNDROME 2, METATROPIC DYSPLASIA, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, FRONTOTEMPORAL DEMENTIA, BARDET-BIEDL SYNDROME 3, PICK DISEASE, STROMME SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, ?OTOFACIOCERVICAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, BARDET-BIEDL SYNDROME 4, PARKINSON DISEASE 20, EARLY-ONSET, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, PERRY SYNDROME, MISMATCH REPAIR CANCER SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, PITUITARY DEPENDENT HYPERCORTISOLISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MARTSOLF SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, MALOUF SYNDROME, WAARDENBURG SYNDROME, TYPE 3, HERMANSKY-PUDLAK SYNDROME 2, USHER SYNDROME, TYPE 1F, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LISSENCEPHALY 6, WITH MICROCEPHALY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, OCULOECTODERMAL SYNDROME, GLYCINE ENCEPHALOPATHY, ALZHEIMER DISEASE-2, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, WIEDEMANN-STEINER SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, 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}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, CHUDLEY-MCCULLOUGH SYNDROME, PARASTREMMATIC DWARFISM, ?SECKEL SYNDROME 4, 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}, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, CHOROID PLEXUS PAPILLOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MYOTUBULAR MYOPATHY, X-LINKED, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BARDET-BIEDL SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, BARDET-BIEDL SYNDROME 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, SED, MAROTEAUX TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, CROUZON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, DYSTONIA-1, TORSION, HEART-HAND SYNDROME, SLOVENIAN TYPE, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, GRISCELLI SYNDROME, TYPE 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, DEAFNESS, AUTOSOMAL RECESSIVE 2, BRACHYOLMIA TYPE 3, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, AU-KLINE SYNDROME

CALM1, CA2, APOE, TOR1A, SYNE1, PAFAH1B1, HSPB1, LMNA, TH, SCRIB, ACTB, CENPF, MYO7A, RAB27A, MYO5A, CDK5, BBS4, SNCA, CLN3, EIF4A3, BBS1, NDRG1, RAB7A, DNM2, NOP56, BBS2, ATN1, CREBBP, GNAI2, ACTA1, DDC, SMARCA4, ERBB3, DNAJC5, P4HB, NOS3, LMNB1, MAPT, BUB1B, KIF5A, OPHN1, GTPBP3, HTT, TUBG1, MKKS, HSPD1, TUBGCP4, BBS7, MLH1, ARL6, SNAP25, EYA1, SMC3, CEP83, CTNNB1, RAB3GAP2, SPTBN2, SYN1, DMD, GLDC, PPP2R1A, KIF1B, BRCA1, SMC1A, KRAS, PCDH15, MRPL3, KATNB1, DTNBP1, TP53, DCTN1, HNRNPK, ARL6IP1, KIF11, CSNK1D, STXBP1, TRPV4, SNAP29, DYNC1H1, CENPJ, BBS5, AR, NDE1, NGF, STUB1, PAX3, SYNJ1, ATM, TBP, LRPPRC, AP3B1, CASK, DISC1, PRKACA, GPSM2, CENPE, FGFR2, PCNA, CLASP1, GRIN2B, OTOF, PAM16, HRAS, DCC, CDK5RAP2, FMN2, VPS45, HSPG2, TNF, EXOC8, PCLO, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, BASAL CELL NEVUS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, BARAITSER-WINTER SYNDROME 1, WEAVER SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?LICHTENSTEIN-KNORR SYNDROME, CORNELIA DE LANGE SYNDROME 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FRASER SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, BARDET-BIEDL SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, LARSEN SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PERRY SYNDROME, ALZHEIMER DISEASE-2, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OTOPALATODIGITAL SYNDROME, TYPE I, ATELOSTEOGENESIS, TYPE I, ?SECKEL SYNDROME 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, SECKEL SYNDROME 7, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLYCOGEN STORAGE DISEASE II, {PARKINSON DISEASE 17}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, FRONTOMETAPHYSEAL DYSPLASIA, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, WIEDEMANN-STEINER SYNDROME, MELNICK-NEEDLES SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, HYPOBETALIPOPROTEINEMIA, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, DEJERINE-SOTTAS DISEASE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, WISKOTT-ALDRICH SYNDROME, CAMURATI-ENGELMANN DISEASE, HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, 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}, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, FRAXE, CHOROID PLEXUS PAPILLOMA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MALOUF SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HETEROTOPIA, PERIVENTRICULAR, CORNELIA DE LANGE SYNDROME 2, SPINOCEREBELLAR ATAXIA 17, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, CARDIOMYOPATHY, DILATED, 1A, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE

CALM1, APOE, PEX14, EZH2, CAV1, APP, SYNE1, CTNNB1, TP53, DSP, SUFU, SERPINA1, CASC5, ACTB, TGFB1, RFXANK, THRA, TBP, SORL1, DAG1, NIN, DISC1, ESR1, MT-CO2, GRIP1, BBS4, LMNA, CHAMP1, FLNA, SMC1A, CEP57, APOB, SLC9A1, PRKDC, IL10, GAA, LRPPRC, DST, PRX, ANK3, JUP, DCTN1, RAB7A, DNM2, BICD2, SMC3, HRAS, ASPM, VPS35, AKAP9, CLASP1, ALB, GRID2, WAS, NFKBIL1, CEP63, ACD, FLNB, CCND1

BARAITSER-WINTER SYNDROME 1, SUPRANUCLEAR PALSY, PROGRESSIVE, USHER SYNDROME, TYPE 1B, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, DEAFNESS, AUTOSOMAL RECESSIVE 9, AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, DEAFNESS, AUTOSOMAL DOMINANT 11, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, METATROPIC DYSPLASIA, FRONTOTEMPORAL DEMENTIA, BARDET-BIEDL SYNDROME 3, STROMME SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, HUNTINGTON DISEASE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, BARDET-BIEDL SYNDROME 4, PARKINSON DISEASE 20, EARLY-ONSET, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, PERRY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PARKINSON DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HERMANSKY-PUDLAK SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, ?MICROHYDRANENCEPHALY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GRISCELLI SYNDROME, TYPE 1, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, NOONAN SYNDROME 4, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, OCULOECTODERMAL SYNDROME, GLYCINE ENCEPHALOPATHY, ATAXIA-TELANGIECTASIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?DYSTONIA, JUVENILE-ONSET, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 8, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, BECKER MUSCULAR DYSTROPHY, MIRROR MOVEMENTS 1, PARASTREMMATIC DWARFISM, 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}, SPINOCEREBELLAR ATAXIA 17, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, BARDET-BIEDL SYNDROME 6, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BARDET-BIEDL SYNDROME 5, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, BARDET-BIEDL SYNDROME 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, SED, MAROTEAUX TYPE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LISSENCEPHALY 4 (WITH MICROCEPHALY), CROUZON SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, DYSTONIA-1, TORSION, PICK DISEASE, GRISCELLI SYNDROME, TYPE 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, DEAFNESS, AUTOSOMAL RECESSIVE 2, BRACHYOLMIA TYPE 3, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1

CALM1, CLN3, BBS5, DNM2, NDE1, TRPV4, PAFAH1B1, CDK5, HSPB1, BBS7, PCLO, SCRIB, DNAJC5, CLASP1, OTOF, SYNJ1, MAPT, ATM, MYO5A, KRAS, DDC, AP3B1, BUB1B, CENPF, CORO1A, RAB27A, DISC1, SNAP29, GLDC, CASK, CSNK1D, ARL6, BBS4, OPHN1, SNCA, BRCA1, EXOC8, GRIN2B, TH, CA2, NGF, GTPBP3, SOS1, FGFR2, BBS1, MYO7A, DTNBP1, TP53, NDRG1, RAB7A, HTT, KIF5A, DCTN1, STUB1, TUBG1, TBP, MKKS, SNAP25, HRAS, DCC, TUBGCP4, BBS2, ACTA2, PRKACA, ACTB, STXBP1, VPS45, SYN1, AP4B1, TOR1A, ARL6IP1, DYNC1H1, CTNNB1, DMD, PIK3R1

BARAITSER-WINTER SYNDROME 1, SUPRANUCLEAR PALSY, PROGRESSIVE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, USHER SYNDROME, TYPE 1B, ?MYOPATHY, SCAPULOHUMEROPERONEAL, FRASER SYNDROME, NICOLAIDES-BARAITSER SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, ADAMS-OLIVER SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, COCKAYNE SYNDROME, TYPE B, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLUCOCORTICOID RESISTANCE, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, DEAFNESS, AUTOSOMAL DOMINANT 11, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MEIER-GORLIN SYNDROME 1, MEIER-GORLIN SYNDROME 4, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), CORNELIA DE LANGE SYNDROME 3, FRONTOTEMPORAL DEMENTIA, HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, CORNELIA DE LANGE SYNDROME 1, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, XERODERMA PIGMENTOSUM, GROUP A, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, RAPADILINO SYNDROME, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, NIEMANN-PICK DISEASE TYPE C1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, PEROXISOME BIOGENESIS DISORDER 2B, SECKEL SYNDROME 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PERRY SYNDROME, LIPOYLTRANSFERASE 1 DEFICIENCY, MISMATCH REPAIR CANCER SYNDROME, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, ?MENTAL RETARDATION, X-LINKED 100, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, WARSAW BREAKAGE SYNDROME, ROTHMUND-THOMSON SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, SPINOCEREBELLAR ATAXIA 17, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, RABSON-MENDENHALL SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, CORPUS CALLOSUM AGENESIS, PEROXISOME BIOGENESIS DISORDER 4B, NEUROFIBROMATOSIS, TYPE 1, HEIMLER SYNDROME 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, LISSENCEPHALY 3, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, LISSENCEPHALY 6, WITH MICROCEPHALY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MIRROR MOVEMENTS 2, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?MECKEL SYNDROME 12, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, {AUTISM, SUSCEPTIBILITY TO, 18}, FRAGILE X TREMOR/ATAXIA SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MYOTONIC DYSTROPHY 2, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, TANGIER DISEASE, 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}, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, ?HYDROLETHALUS SYNDROME 2, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, FRAGILE X SYNDROME, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, CHOROID PLEXUS PAPILLOMA, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), SCHIMKE IMMUNOOSSEOUS DYSPLASIA, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, PARIETAL FORAMINA 1, POLYCYSTIC LIVER DISEASE, DE SANCTIS-CACCHIONE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, CRANIOSYNOSTOSIS, TYPE 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ?SECKEL SYNDROME 8, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 9, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATASIA, CHILDHOOD, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, XERODERMA PIGMENTOSUM, GROUP D, WATSON SYNDROME, DYSTONIA-PARKINSONISM, X-LINKED, LESCH-NYHAN SYNDROME, KARTAGENER SYNDROME, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, MACROCEPHALY/AUTISM SYNDROME, DYSTONIA-1, TORSION, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, SPINAL MUSCULAR ATROPHY-1, PALLISTER-HALL SYNDROME, PICK DISEASE, BONE MARROW FAILURE SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO}, BANNAYAN-RILEY-RUVALCABA SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CODAS SYNDROME, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, DEAFNESS, AUTOSOMAL RECESSIVE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, 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-HYPOTONIC FACIES SYNDROME, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2

CALM1, MPDZ, PEX14, TOR1A, MSH6, PAFAH1B1, CNBP, TUBA4A, ACTB, KIF1C, PGK1, BCAP31, AP2S1, MYO7A, ALPL, MLH1, HAX1, CTNNB1, NPC1, DNAH5, RECQL4, MYH14, EIF4A3, IGHMBP2, CHD8, KIF7, KIF1B, ERCC6, DNAH8, CDT1, ABCD1, ERCC2, SPAST, CYC1, LIPT1, EXOSC8, DYNC2H1, KIF1A, NF1, ACTA1, SMARCA2, ATRX, GRIP1, SMARCA4, APOA1, MEGF10, TUBA1A, KIF4A, AR, LONP1, PAXIP1, ERCC3, MAPT, TNF, KIF5A, TAF6, PEX6, ABCA1, MRE11A, KIF5C, TUBB2B, DDX11, CCND1, ABCB7, TNNT1, FMR1, PMS2, TUBG1, GMPPB, TAF1, HSPD1, RBPJ, ABCD4, FANCA, TNNT2, XPA, GLUD1, INS, SMC3, DDX3X, HPRT1, MT-ATP6, MYH3, RAD51, KIF2A, HDAC6, CTDP1, SMARCAL1, PEX5, TUBB, BRCA1, PRKDC, KATNB1, VCP, ABCA7, TP53, SEC63, ATP5A1, DCTN1, ABCC6, DNA2, KIF11, CSNK1D, DNAH1, UBQLN2, OGDH, PTEN, XPC, ATP13A2, DDOST, DYNC1H1, NHP2, PEX1, ATXN2, CRBN, MSH2, ACTG1, NR3C1, ERCC6L2, KIF14, KIF22, LAMA2, ENTPD1, MSX2, ATM, DARS, TBP, SPTLC1, ORC1, INSR, CENPE, RANBP2, BLM, ABCC9, FANCC, RTEL1, PCNA, CLASP1, GRIN2B, ABCC8, KIF21A, CDK5RAP2, DNAJC3, POLR3B, ATR, ESR1, TUFM, RARS, PIK3R1

ADAMS-OLIVER SYNDROME 5, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, CORNELIA DE LANGE SYNDROME 1, DIGEORGE SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WEAVER SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, PARIETAL FORAMINA 1, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, HYPOPHOSPHATASIA, CHILDHOOD, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CRANIOSYNOSTOSIS, TYPE 2, MISMATCH REPAIR CANCER SYNDROME, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, RUBINSTEIN-TAYBI SYNDROME 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BRANCHIOOCULOFACIAL SYNDROME, SMED STRUDWICK TYPE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PITUITARY ADENOMA, ACTH-SECRETING, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, SED CONGENITA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ADAMS-OLIVER SYNDROME 3, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, GILLESPIE SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPOPHOSPHATASIA, INFANTILE, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, 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}, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, VELOCARDIOFACIAL SYNDROME, ALZHEIMER DISEASE, TYPE 4, ?OTOFACIOCERVICAL SYNDROME, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, FRONTOTEMPORAL DEMENTIA, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, ROBINOW SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

TBX1, APP, ALPL, CTNNB1, PAX6, NPPA, PSEN1, WNT5A, NOS3, MSX2, GATA6, TBX3, GAL, RYR1, MEF2C, NOTCH1, LHX3, GJA1, MSH2, NIPBL, COL2A1, CCND1, SOX18, EZH2, EP300, SOX11, TFAP2A, BMP4, T, SMAD4, NKX2-5, ALB, ESR1, SHH, GNAI2, INS, RBPJ, EYA1, PIK3R1