ABNORMALITY OF THE NERVOUS SYSTEM, HP:0000707

Associated diseases: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, KOWARSKI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ?CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CEROID LIPOFUSCINOSIS NEURONAL 6, NOONAN SYNDROME 5, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, DYSAUTONOMIA, FAMILIAL, ORTHOSTATIC INTOLERANCE, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIH, EXOSTOSES, MULTIPLE, TYPE 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, CATEL-MANZKE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, {PARKINSON DISEASE 11}, JOUBERT SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, ACHONDROPLASIA, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, 46XY SEX REVERSAL 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, SECKEL SYNDROME 7, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, CK SYNDROME, BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, FLOATING-HARBOR SYNDROME, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, PRADER-WILLI SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, MUCOPOLYSACCHARIDOSIS TYPE IIID, ACROMELIC FRONTONASAL DYSOSTOSIS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE WITH AXONAL NEUROPATHY, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, NEUROFIBROMATOSIS, TYPE 1, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, SEIZURES, BENIGN NEONATAL, TYPE 2, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, KAHRIZI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ALPHA-METHYLACETOACETIC ACIDURIA, THYROID HORMONE METABOLISM, ABNORMAL, ?CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4, CRANIOMETAPHYSEAL DYSPLASIA, HYPER-IGD SYNDROME, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING 2, ?MECKEL SYNDROME 12, SPINOCEREBELLAR ATAXIA 19, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MUENKE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, 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}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, ABLEPHARON-MACROSTOMIA SYNDROME, ?AL-GAZALI-BAKALINOVA SYNDROME, HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, NEMALINE MYOPATHY 6, AUTOSOMAL DOMINANT, FRONTONASAL DYSPLASIA 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRAGILE X SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LEBER CONGENITAL AMAUROSIS 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, CPT DEFICIENCY, HEPATIC, TYPE II, JOUBERT SYNDROME 23, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, RENAL CYSTS AND DIABETES SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5}, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, MYOCLONIC-ATONIC EPILEPSY, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, {PANIC DISORDER, SUSCEPTIBILITY TO}, DYSTONIA 26, MYOCLONIC, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, CURRARINO SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, XERODERMA PIGMENTOSUM, GROUP B, SPINOCEREBELLAR ATAXIA 11, SHAHEEN SYNDROME, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, RENAL GLUCOSURIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, OPTIC ATROPHY 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, WAARDENBURG SYNDROME, TYPE 4B, RETINITIS PIGMENTOSA 65, CONE-ROD DYSTROPHY 15, ?SECKEL SYNDROME 6, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, COACH SYNDROME, ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, BORJESON-FORSSMAN-LEHMANN SYNDROME, PANHYPOPITUITARISM, X-LINKED, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ACHROMATOPSIA-4, {PARKINSON DISEASE 17}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27, NEMALINE MYOPATHY 5, AMISH TYPE, TRICHOHEPATOENTERIC SYNDROME 1, STORMORKEN SYNDROME, MENTAL RETARDATION, X-LINKED 1, PROPIONICACIDEMIA, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, CONGENITAL DISORDER OF DEGLYCOSYLATION, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, ?STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, DYSTONIA 27, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, SOTOS SYNDROME 1, ACHROMATOPSIA-2, RENAL TUBULAR DYSGENESIS, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, HYPEREKPLEXIA 2, AUTOSOMAL RECESSIVE, OCCIPITAL HORN SYNDROME, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, GALACTOKINASE DEFICIENCY WITH CATARACTS, MARTSOLF SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 6}, AMYLOIDOSIS, FINNISH TYPE, C5 DEFICIENCY, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, SCLEROSTEOSIS 1, JOUBERT SYNDROME 10, DIHYDROPYRIMIDINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, PERRAULT SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, PROLIDASE DEFICIENCY, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 4, GALACTOSIALIDOSIS, SPINOCEREBELLAR ATAXIA 35, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PARKINSON DISEASE, JUVENILE, TYPE 2, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, CAMURATI-ENGELMANN DISEASE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, CHUDLEY-MCCULLOUGH SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, DOOR SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, ?AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, KRABBE DISEASE, ATYPICAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, EPISODIC KINESIGENIC DYSKINESIA 1, ?SLOWED NERVE CONDUCTION VELOCITY, AD, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, ?N SYNDROME, ?FRONTONASAL DYSPLASIA 3, SPINOCEREBELLAR ATAXIA 38, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 11, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 3, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, LESCH-NYHAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, 3MC SYNDROME 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, D-2-HYDROXYGLUTARIC ACIDURIA 2, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, JOUBERT SYNDROME 6, {SPECIFIC LANGUAGE IMPAIRMENT 5}, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, IRIS HYPOPLASIA AND GLAUCOMA, IRIDOGONIODYSGENESIS, TYPE 1, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, FACTOR XIIIA DEFICIENCY, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, FAZIO-LONDE DISEASE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, FG SYNDROME 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, ISOVALERIC ACIDEMIA, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, SJOGREN-LARSSON SYNDROME, MARSHALL SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, PSEUDOACHONDROPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WILSON DISEASE, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, PARTINGTON SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 1, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, CAUDAL REGRESSION SYNDROME, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, METATROPIC DYSPLASIA, SC PHOCOMELIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, BETA-UREIDOPROPIONASE DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), FANCONI ANEMIA, COMPLEMENTATION GROUP J, FUCOSIDOSIS, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, MENTAL RETARDATION, X-LINKED 9, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, OROTIC ACIDURIA, HARTSFIELD SYNDROME, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, PHELAN-MCDERMID SYNDROME, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, CENTRONUCLEAR MYOPATHY 5, YUNIS-VARON SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PARKINSON DISEASE 4, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, GERODERMA OSTEODYSPLASTICUM, COMBINED SAP DEFICIENCY, FACTOR VII DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, MICROPHTHALMIA WITH LIMB ANOMALIES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, COLD-INDUCED SWEATING SYNDROME 2, MENTAL RETARDATION, X-LINKED 45, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, NEPHRONOPHTHISIS 3, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, XERODERMA PIGMENTOSUM, GROUP C, ETHYLMALONIC ENCEPHALOPATHY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, METHYLMALONIC ACIDURIA CBLB TYPE, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8}, {EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2}, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, CONE-ROD DYSTROPHY 5, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MYOTONIC DYSTROPHY 2, MUCOPOLYSACCHARIDOSIS IH/S, TANGIER DISEASE, PAPILLON-LEFEVRE SYNDROME, JOUBERT SYNDROME 21, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, PITUITARY ADENOMA, PROLACTIN-SECRETING, LEBER CONGENITAL AMAUROSIS 6, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ?GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT, MEIER-GORLIN SYNDROME 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, POLYMICROGYRIA, BILATERAL PERISYLVIAN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OPITZ-KAVEGGIA SYNDROME, SENGERS SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, GILLESPIE SYNDROME, MYHRE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, HYPERPROLINEMIA, TYPE I, MYOTONIA CONGENITA, RECESSIVE, BLUE CONE MONOCHROMACY, AICARDI-GOUTIERES SYNDROME 5, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, SMITH-MCCORT DYSPLASIA, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 94, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, BONE MARROW FAILURE SYNDROME 2, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46XY SEX REVERSAL, PARTIAL OR COMPLETE, LEUKODYSTROPHY, HYPOMYELINATING, 3, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IO, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, WOLFF-PARKINSON-WHITE SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, CEROID LIPOFUSCINOSIS, NEURONAL, 7, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, PELGER-HUET ANOMALY, PARAGANGLIOMAS 2, BARDET-BIEDL SYNDROME 6, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, FEBRILE SEIZURES, FAMILIAL, 11, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ?PONTOCEREBELLAR HYPOPLASIA TYPE 5, FANCONI ANEMIA, COMPLEMENTATION GROUP N, CYCLIC VOMITING SYNDROME; CVS, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE VIII, MENTAL RETARDATION, X-LINKED 99, JOUBERT SYNDROME 16, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, RETT SYNDROME, CONGENITAL VARIANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, HUNTINGTON DISEASE, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 4}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, DYSTONIA 16, XIA-GIBBS SYNDROME, OCULODENTODIGITAL DYSPLASIA, ALLAN-HERNDON-DUDLEY SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS, COENZYME Q10 DEFICIENCY, PRIMARY, 2, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, CEREBRAL CAVERNOUS MALFORMATIONS-2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, C4B DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, SECKEL SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA, ?MECKEL SYNDROME 9, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, JOUBERT SYNDROME 2, MUCOPOLYSACCHARIDOSIS II, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, CITRULLINEMIA, ADULT-ONSET TYPE II, MENTAL RETARDATION, X-LINKED 29 AND OTHERS, NEPHRONOPHTHISIS 11, DYSTONIA-12, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, MENTAL RETARDATION, X-LINKED 96, SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, HYPEREKPLEXIA HEREDITARY, BARTTER SYNDROME, TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, FUMARASE DEFICIENCY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, JALILI SYNDROME, MENTAL RETARDATION, X-LINKED 41, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, HUNTINGTON DISEASE-LIKE 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, ?MYOSCLEROSIS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, A, EPISODIC ATAXIA, TYPE 6, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 33, {PARKINSON DISEASE 18}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, GALACTOSEMIA, FANCONI ANEMIA, COMPLEMENTATION GROUP L, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, RENPENNING SYNDROME, NEMALINE MYOPATHY 10, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ANDROGEN INSENSITIVITY, SCHIZENCEPHALY, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, ?SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, GM1-GANGLIOSIDOSIS, TYPE II, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ?MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, HAMAMY SYNDROME, ATAXIA-OCULOMOTOR APRAXIA 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DENT DISEASE 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, SUPRANUCLEAR PALSY, PROGRESSIVE, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ENDOCRINE-CEREBROOSTEODYSPLASIA, ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, GLUTARICACIDURIA, TYPE I, ACRODERMATITIS ENTEROPATHICA, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, DANON DISEASE, VAN BUCHEM DISEASE, CORNELIA DE LANGE SYNDROME 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, CEROID LIPOFUSCINOSIS, NEURONAL, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, DEMENTIA, FAMILIAL DANISH, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CARDIOMYOPATHY, DILATED, 1E, FILIPPI SYNDROME, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, GAUCHER DISEASE, TYPE IIIC, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI, LEUKODYSTROPHY, HYPOMYELINATING, 11, MICROPHTHALMIA, SYNDROMIC 2, ADAMS-OLIVER SYNDROME 3, LARSEN SYNDROME, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, DIAMOND-BLACKFAN ANEMIA 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18, CRANIOFRONTONASAL DYSPLASIA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FRANK-TER HAAR SYNDROME, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 10, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2, CARPENTER SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, LISSENCEPHALY 6, WITH MICROCEPHALY, LYSYL HYDROXYLASE 3 DEFICIENCY, PARAGANGLIOMAS 3, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, INFANTILE NEUROAXONAL DYSTROPHY 1, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, MALONYL-COA DECARBOXYLASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, NEURODEGENERATION WITH BRAIN IRON ACCULULATION 5, ATAXIA, CEREBELLAR, CAYMAN TYPE, NANCE-HORAN SYNDROME, ?WEBB-DATTANI SYNDROME, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, WIEDEMANN-STEINER SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, FAMILIAL ADENOMATOUS POLYPOSIS 3, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, HYPOKALEMIC PERIODIC PARALYSIS 1, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, 3-METHYLGLUTACONIC ACIDURIA, TYPE III, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, MYOPATHY, SPHEROID BODY, HYPERPROLINEMIA, TYPE II, SPINOCEREBELLAR ATAXIA 6, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, DEAFNESS, AUTOSOMAL DOMINANT 9, RETINITIS PIGMENTOSA 72, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE IB, NORRIE DISEASE, LEBER CONGENITAL AMAUROSIS 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, BARBER-SAY SYNDROME, ASPARTYLGLUCOSAMINURIA, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, ODONTOONYCHODERMAL DYSPLASIA, DESBUQUOIS DYSPLASIA 1, DYSTONIA 24, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, KANZAKI DISEASE, MARSHALL-SMITH SYNDROME, MACULAR DYSTROPHY, VITELLIFORM, 3, PEROXISOME BIOGENESIS DISORDER 7B, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, CORTICAL MALFORMATIONS, OCCIPITAL, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, GLANZMANN THROMBASTHENIA, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, ABCD SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, KARTAGENER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, AMYOTROPHIC LATERAL SCLEROSIS 9, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, OROFACIODIGITAL SYNDROME VI, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HOLOPROSENCEPHALY-5, 2-METHYLBUTYRYLGLYCINURIA, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, TYROSINEMIA, TYPE II, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], MONONEUROPATHY OF THE MEDIAN NERVE, MILD, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ?MIRROR MOVEMENTS 3, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, AORTIC ANEURYSM, FAMILIAL THORACIC 4, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, FANCONI ANEMIA, COMPLEMENTATION GROUP P, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10, NIJMEGEN BREAKAGE SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, CHORIODAL DYSTROPHY, CENTRAL AREOLAR 2, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, ANAUXETIC DYSPLASIA, CARCINOID TUMORS, INTESTINAL, ARGININOSUCCINIC ACIDURIA, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, SPINAL MUSCULAR ATROPHY-2, ?OTOFACIOCERVICAL SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE XVII, MENTAL RETARDATION, X-LINKED 12/35, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE III, SHPRINTZEN-GOLDBERG SYNDROME, OROFACIODIGITAL SYNDROME IV, OROFACIODIGITAL SYNDROME V, NOONAN SYNDROME 7, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, RAINE SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 4, ?SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MULIBREY NANISM, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, HOLOPROSENCEPHALY-4, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, NOONAN SYNDROME 9, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, SPINOCEREBELLAR ATAXIA 8, MYOPATHY, MYOFIBRILLAR, 1, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, FRAXE, LEUKODYSTROPHY, HYPOMYELINATING, 2, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BEHR SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS, MUCOLIPIDOSIS IV, WHITE-SUTTON SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, NOONAN SYNDROME 8, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, MEDNIK SYNDROME, CHAR SYNDROME, RETINITIS PIGMENTOSA 37, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, PEROXISOME BIOGENESIS DISORDER 3B, FRUCTOSE INTOLERANCE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, PRIMARY LATERAL SCLEROSIS, JUVENILE, SPINOCEREBELLAR ATAXIA 21, MECKEL SYNDROME 7, BRITTLE CORNEA SYNDROME 2, OBESITY, MORBID, DUE TO LEPTIN RECEPTOR DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, CONE-ROD DYSTROPHY, X-LINKED, 3, GIANT AXONAL NEUROPATHY-1, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, OVARIAN DYSGENESIS 1, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, MCLEOD SYNDROME WITH OR WITHOUT CHRONIC GRANULOMATOUS DISEASE, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, ELLIS-VAN CREVELD SYNDROME, NEU-LAXOVA SYNDROME 1, MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, KRABBE DISEASE, MENTAL RETARDATION, X-LINKED 19, GRACILE BONE DYSPLASIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, ASPARAGINE SYNTHETASE DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 3, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEUKODYSTROPHY, HYPOMYELINATING, 9, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, BARDET-BIEDL SYNDROME 5, CYSTINURIA, LEBER CONGENITAL AMAUROSIS 10, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44, ?PARKINSONISM WITH SPASTICITY, X-LINKED, MACROCEPHALY/AUTISM SYNDROME, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, BOWEN-CONRADI SYNDROME, SENIOR-LOKEN SYNDROME 9, GLYCOGEN STORAGE DISEASE 0, MUSCLE, MENTAL RETARDATION, X-LINKED, WITH ISOLATED GROWTH HORMONE DEFICIENCY, CAPOS SYNDROME, GRISCELLI SYNDROME, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, ACHROMATOPSIA-3, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GAUCHER DISEASE, TYPE III, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CEROID LIPOFUSCINOSIS, NEURONAL, 11, {PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY, SOMATIC}, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, WARBURG MICRO SYNDROME 3, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BASAL CELL NEVUS SYNDROME, BARAITSER-WINTER SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ?ACAT2 DEFICIENCY, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, GLASS SYNDROME, MYOPATHY, CENTRONUCLEAR, 4, BROWN-VIALETTO-VAN LAERE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 10, WAARDENBURG SYNDROME, TYPE 4A, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FANCONI ANEMIA, COMPLEMENTATION GROUP E, WARBURG MICRO SYNDROME 2, MORBID OBESITY AND SPERMATOGENIC FAILURE, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, TREACHER COLLINS SYNDROME 1, ?BARDET-BIEDL SYNDROME 19, EPISODIC ATAXIA/MYOKYMIA SYNDROME, LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), ALZHEIMER DISEASE, TYPE 4, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, GLUTAMINE DEFICIENCY, CONGENITAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, SBBYSS SYNDROME, HMG-COA LYASE DEFICIENCY, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, MECKEL SYNDROME 10, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, BARTH SYNDROME, PARKINSON DISEASE 1, ?MENTAL RETARDATION, X-LINKED 100, ?MYASTHENIC SYNDROME, CONGENITAL, 15, WITHOUT TUBULAR AGGREGATES, DEMENTIA, FAMILIAL, NONSPECIFIC, AGNATHIA-OTOCEPHALY COMPLEX, TEMPLE-BARAITSER SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 5, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, PONTOCEREBELLAR HYPOPLASIA TYPE 4, EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2, CHYLOMICRON RETENTION DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {KURU, SUSCEPTIBILITY TO}, {BLEPHAROSPASM, PRIMARY BENIGN}, DEAFNESS AND MYOPIA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AL-RAQAD SYNDROME, COLD-INDUCED SWEATING SYNDROME 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?PERIVENTRICULAR NODULAR HETEROTOPIA 6, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 10, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, RITSCHER-SCHINZEL SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, NASU-HAKOLA DISEASE, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, IMINOGLYCINURIA, DIGENIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, ?SECKEL SYNDROME 8, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 6B, MUCOPOLYSACCHARIDOSIS IS, COWDEN SYNDROME 5, PORENCEPHALY 2, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?MICROPHTHALMIA, SYNDROMIC 13, OROFACIODIGITAL SYNDROME I, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ?SNEDDON SYNDROME, CATARACT 2, MULTIPLE TYPES, SPINOCEREBELLAR ATAXIA 12, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, FARBER LIPOGRANULOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), APERT SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, GLUTATHIONE SYNTHETASE DEFICIENCY, RETINITIS PIGMENTOSA 71, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, IMMUNODEFICIENCY 9, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, EPILEPSY, PROGRESSIVE MYOCLONIC 7, ALSTROM SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ?OROFACIODIGITAL SYNDROME XIV, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, ?IMMUNODEFICIENCY 37, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, ROBERTS SYNDROME, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, ZIMMERMANN-LABAND SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, MYOPATHY, DISTAL, 4, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY, BARDET-BIEDL SYNDROME 3, SPINOCEREBELLAR ATAXIA 28, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, KABUKI SYNDROME 2, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, GLYCOGEN STORAGE DISEASE XII, PETERS-PLUS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES, FANCONI ANEMIA, COMPLEMENTATION GROUP B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, PROGRESSIVE MYOCLONUS EPILEPSY WITH ATAXIA, CEROID LIPOFUSCINOSIS, NEURONAL, 8, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, LEBER OPTIC ATROPHY AND DYSTONIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, BARDET-BIEDL SYNDROME 8, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, LEBER CONGENITAL AMAUROSIS 7, ?SPASTIC PARAPLEGIA 63, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PERRAULT SYNDROME 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, AURAL ATRESIA, CONGENITAL, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, OPTIC ATROPHY 3 WITH CATARACT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, PITT-HOPKINS-LIKE SYNDROME 2, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, MENTAL RETARDATION, FRA12A TYPE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, VAN MALDERGEM SYNDROME 1, CHOREOACANTHOCYTOSIS, ACHROMATOPSIA 6, RETINAL CONE DYSTROPHY 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SPINOCEREBELLAR ATAXIA 13, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WEAVER SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, WIEACKER-WOLFF SYNDROME, LOWE SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCINE ENCEPHALOPATHY, ALZHEIMER DISEASE-2, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 3, SED CONGENITA, JAWAD SYNDROME, CEREBRAL CAVERNOUS MALFORMATIONS 3, BEAULIEU-BOYCOTT-INNES SYNDROME, HYPEREKPLEXIA 3, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, LATHOSTEROLOSIS, BARDET-BIEDL SYNDROME 13, METACHROMATIC LEUKODYSTROPHY, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, ABETALIPOPROTEINEMIA, CODAS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CONE-ROD DYSTROPHY 21, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, KENNY-CAFFEY SYNDROME, TYPE 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, TATTON-BROWN-RAHMAN SYNDROME, MECKEL SYNDROME 5, DIABETES INSIPIDUS, NEPHROGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, GM1-GANGLIOSIDOSIS, TYPE III, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ATAXIA-OCULOMOTOR APRAXIA 3, KABUKI SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VERHEIJ SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MIRROR MOVEMENTS 1, {PARKINSON DISEASE 8}, WOLFRAM SYNDROME, C8 DEFICIENCY, TYPE II, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, ?ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, OPITZ GBBB SYNDROME, TYPE II, DYSKERATOSIS CONGENITA, X-LINKED, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, EPILEPSY, FAMILIAL TEMPORAL LOBE, 5, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, ?UROCANASE DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SPINOCEREBELLAR ATAXIA 27, WARSAW BREAKAGE SYNDROME, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, CRANIOSYNOSTOSIS 4, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 41, SPINAL MUSCULAR ATROPHY-4, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, KBG SYNDROME, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SPEECH-LANGUAGE DISORDER-1, LEBER OPTIC ATROPHY, RHEUMATOID ARTHRITIS, CRANIOSYNOSTOSIS 3, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, PELIZAEUS-MERZBACHER DISEASE, ?TETRA-AMELIA SYNDROME, CITRULLINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, JOUBERT SYNDROME 15, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, FRONTONASAL DYSPLASIA 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL, WAARDENBURG SYNDROME, TYPE 4C, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, JOUBERT SYNDROME 24, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, KLEEFSTRA SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?PREMATURE OVARIAN FAILURE 10, WARBURG MICRO SYNDROME 4, NEPHRONOPHTHISIS 18, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIG, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, MENTAL RETARDATION, X-LINKED SYNDROMIC, RAYMOND TYPE, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, CARPAL TUNNEL SYNDROME, FAMILIAL, SPINOCEREBELLAR ATAXIA 23, MYOPATHY, MYOFIBRILLAR, 4, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, WOODHOUSE-SAKATI SYNDROME, COCOON SYNDROME, MEIER-GORLIN SYNDROME 2, ?SPINOCEREBELLAR ATAXIA 34, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ADAMS-OLIVER SYNDROME 2, COMBINED MALONIC AND METHYLMALONIC ACIDURIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, PARKINSON DISEASE 6, EARLY ONSET, MYASTHENIC SYNDROME, CONGENITAL, 16, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HYPERLYSINEMIA, VAN MALDERGEM SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4, XERODERMA PIGMENTOSUM, VARIANT TYPE, DICARBOXYLIC AMINOACIDURIA, SMITH-MAGENIS SYNDROME, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, DEAFNESS, X-LINKED 5, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT, SACCHAROPINURIA, TARP SYNDROME, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, ROIFMAN SYNDROME, ALBINISM, OCULOCUTANEOUS, TYPE VII, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, CONE-ROD DYSTROPHY, X-LINKED, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, HETEROTOPIA, PERIVENTRICULAR, PARKINSON DISEASE 21, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, 46XY PARTIAL GONADAL DYSGENESIS, WITH MINIFASCICULAR NEUROPATHY, ?LICHTENSTEIN-KNORR SYNDROME, NEPHRONOPHTHISIS 1, JUVENILE, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, [HISTIDINEMIA], EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, MYOTONIC DYSTROPHY 1, SILVER-RUSSELL SYNDROME, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, HOLOPROSENCEPHALY-7, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, COENZYME Q10 DEFICIENCY, PRIMARY, 4, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, SALLA DISEASE, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AMYOTROPHIC LATERAL SCLEROSIS 11, DUANE-RADIAL RAY SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, TYROSINEMIA, TYPE III, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, MYOPATHY, MYOFIBRILLAR, 6, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, ?POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL, MITOCHONDRIAL MYOPATHY WITH DIABETES, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, LEUKOENCEPHALOPATHY WITH ATAXIA, C SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ?OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, VELOCARDIOFACIAL SYNDROME, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, COFFIN-SIRIS SYNDROME 3, DEAFNESS, AUTOSOMAL RECESSIVE 79, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), CHIME SYNDROME, MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6, HYPOMAGNESEMIA 6, RENAL, MUCOLIPIDOSIS III ALPHA/BETA, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ?FEBRILE SEIZURES, FAMILIAL, 4, INSOMNIA, FATAL FAMILIAL, PAROXYSMAL NONKINESIGENIC DYSKINESIA, MENTAL RETARDATION, X-LINKED 98, ?OSTEOGENESIS IMPERFECTA, TYPE XII, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, ?ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CEREBROTENDINOUS XANTHOMATOSIS, MYASTHENIC SYNDROME, CONGENITAL, 5, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, KOHLSCHUTTER-TONZ SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, MECKEL SYNDROME 1, GELEOPHYSIC DYSPLASIA 1, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, ALAGILLE SYNDROME, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, ?XFE PROGEROID SYNDROME, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, DYSTONIA 25, ALAZAMI SYNDROME, OCULAR ALBINISM, TYPE I, NETTLESHIP-FALLS TYPE, CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE, IMMUNODEFICIENCY 23, MICROPHTHALMIA, ISOLATED 8, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1, HYPOCHONDROPLASIA, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, PENDRED'S SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, CORNEAL FLECK DYSTROPHY, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CEREBELLOFACIODENTAL SYNDROME, FEBRILE SEIZURES, FAMILIAL, 3B, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 7, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, [SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN], ALBINISM, OCULOCUTANEOUS, TYPE VI, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, GITELMAN SYNDROME, ULNAR-MAMMARY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, PONTOCEREBELLAR HYPOPLASIA TYPE 2C, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, MOYAMOYA DISEASE 5, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, NEUROFIBROMATOSIS, TYPE 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, XERODERMA PIGMENTOSUM, GROUP D, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, BARDET-BIEDL SYNDROME 10, ANDERSEN SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, PITT-HOPKINS LIKE SYNDROME 1, CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME, USHER SYNDROME, TYPE 1B, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, COENZYME Q10 DEFICIENCY, PRIMARY, 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, THYROID DYSHORMONOGENESIS 3, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, FANCONI ANEMIA, COMPLEMENTATION GROUP G, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT, KAUFMAN OCULOCEREBROFACIAL SYNDROME, NOONAN SYNDROME 6, MENTAL RETARDATION, X-LINKED 93, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, LEBER CONGENITAL AMAUROSIS 9, FRASER SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, MICROPHTHALMIA, SYNDROMIC 14, ?MENTAL RETARDATION, X-LINKED 91, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, 3MC SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, MEVALONIC ACIDURIA, MOYAMOYA 6 WITH ACHALASIA, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, NIEMANN-PICK DISEASE TYPE C1, HOLOPROSENCEPHALY-3, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, ?HYDROLETHALUS SYNDROME 2, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, TRANSCOBALAMIN II DEFICIENCY, MENTAL RETARDATION, WITH OR WITHOUT NYSTAGMUS, FG SYNDROME 4, PARKINSONISM-DYSTONIA, INFANTILE, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ?SPINOCEREBELLAR ATAXIA 40, HYDROLETHALUS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, OHDO SYNDROME, X-LINKED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18, AMYOTROPHIC LATERAL SCLEROSIS 18, ?SECKEL SYNDROME 4, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 2}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, COHEN SYNDROME, OCULOECTODERMAL SYNDROME, MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, GLYCOGEN STORAGE DISEASE IXC, SEIZURES, BENIGN FAMILIAL INFANTILE, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, BARDET-BIEDL SYNDROME 12, BALLER-GEROLD SYNDROME, ALCOHOL DEPENDENCE, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, ATELEIOTIC DWARFISM, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 2}, NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HYPOMAGNESEMIA 1, INTESTINAL, HARTNUP DISORDER, PROUD SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, GALACTOSE EPIMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, EPILEPSY, PROGRESSIVE MYOCLONIC 1A (UNVERRICHT AND LUNDBORG), COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36, PHYTANIC ACID STORAGE DISEASE, BARDET-BIEDL SYNDROME 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?MECKEL SYNDROME 8, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, GAUCHER DISEASE, ATYPICAL, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MOHR-TRANEBJAERG SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, KEPPEN-LUBINSKY SYNDROME, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, {SCHIZOPHRENIA 15}, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, BRANCHIOOCULOFACIAL SYNDROME, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SPINOCEREBELLAR ATAXIA 5, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, SPINOCEREBELLAR ATAXIA 7, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, ?RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES, CEREBROOCULOFACIOSKELETAL SYNDROME 4, LYSINURIC PROTEIN INTOLERANCE, {DYSLEXIA, SUSCEPTIBILITY TO, 2}, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, BARAITSER-WINTER SYNDROME 2, EPISODIC PAIN SYNDROME, FAMILIAL, 3, DYSTONIA 6, TORSION, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, WELANDER DISTAL MYOPATHY, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, AGAMMAGLOBULINEMIA, X-LINKED 1, JOUBERT SYNDROME 17, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, EPISODIC ATAXIA, TYPE 2, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, CARDIOFACIOCUTANEOUS SYNDROME 2, EPILEPSY, FAMILIAL TEMPORAL LOBE, 1, TRIGONOCEPHALY 1, BARDET-BIEDL SYNDROME 16, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET, GLIOMA SUSCEPTIBILITY 1, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, DESMOSTEROLOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, PERRY SYNDROME, GLAUCOMA 3, PRIMARY CONGENITAL, D, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, MAST SYNDROME, BOSLEY-SALIH-ALORAINY SYNDROME, ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME, SPINOCEREBELLAR ATAXIA 36, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, URBACH-WIETHE DISEASE, COWCHOCK SYNDROME, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, TRIFUNCTIONAL PROTEIN DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MIRROR MOVEMENTS 2, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, HOLOPROSENCEPHALY-2, LI-FRAUMENI SYNDROME, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, KEUTEL SYNDROME, SENIOR-LOKEN SYNDROME 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, COUSIN SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, BAINBRIDGE-ROPERS SYNDROME, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, MACULAR CORNEAL DYSTROPHY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, HYPOMAGNESEMIA 2, RENAL, OSTEOGLOPHONIC DYSPLASIA, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, GM1-GANGLIOSIDOSIS, TYPE I, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, PREMATURE OVARIAN FAILURE 8, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, ?BARDET-BIEDL SYNDROME 18, MENTAL RETARDATION, AUTOSOMAL DOMINANT 8, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CHANARIN-DORFMAN SYNDROME, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, L-2-HYDROXYGLUTARIC ACIDURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, OSTEOGENESIS IMPERFECTA, TYPE XIII, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, SPASTIC PARAPLEGIA 2, X-LINKED, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, {DYSLEXIA, SUSCEPTIBILITY TO, 1}, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PERRAULT SYNDROME 5, CHILD SYNDROME, DARIER DISEASE, JOUBERT SYNDROME 7, PCWH SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, BARDET-BIEDL SYNDROME 4, OPITZ GBBB SYNDROME, TYPE I, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EHLERS-DANLOS SYNDROME, TYPE IV, SCHAAF-YANG SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 8, CEREBROOCULOFACIOSKELETAL SYNDROME 2, GLYCOGEN STORAGE DISEASE XI, THYROID DYSHORMONOGENESIS 1, PARIETAL FORAMINA 1, HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA, NOONAN SYNDROME 3, WILSON-TURNER SYNDROME, THYROID DYSHORMONOGENESIS 4, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, ALEXANDER DISEASE, SILVER SPASTIC PARAPLEGIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), PORENCEPHALY 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY, JOUBERT SYNDROME 18, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MENTAL RETARDATION, X-LINKED 90, SPINAL MUSCULAR ATROPHY-1, CONE DYSTROPHY 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, ?MENTAL RETARDATION, X-LINKED 101, RIGHT ATRIAL ISOMERISM, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, NONAKA MYOPATHY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE III, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ?NARCOLEPSY 7, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, DEAFNESS, AUTOSOMAL RECESSIVE 9, AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, 1, AMYOTROPHIC LATERAL SCLEROSIS 20, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, JOUBERT SYNDROME 9, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 8, COLE-CARPENTER SYNDROME 2, DYSTONIA-11, MYOCLONIC, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, CATSHL SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, FRONTOTEMPORAL DEMENTIA, BOUCHER-NEUHAUSER SYNDROME, EPILEPSY, NOCTURNAL FRONTAL LOBE, 3, CONE-ROD DYSTROPHY 11, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14}, CARDIOFACIOCUTANEOUS SYNDROME 4, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NATIVE AMERICAN MYOPATHY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, HELSMOORTEL-VAN DER AA SYNDROME, MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE, BECKWITH-WIEDEMANN SYNDROME, SECKEL SYNDROME 1, LIPOYLTRANSFERASE 1 DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, ?MARDEN-WALKER SYNDROME, FEINGOLD SYNDROME 2, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS, PEROXISOME BIOGENESIS DISORDER 14B, IMMUNODEFICIENCY 44, BRUNNER SYNDROME, FANCONI-BICKEL SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY, ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, COWDEN SYNDROME 6, EPILEPSY, PYRIDOXINE-DEPENDENT, {PARKINSON DISEASE 13}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION, ?DYSTONIA 23, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], ARTS SYNDROME, GM2-GANGLIOSIDOSIS, AB VARIANT, HOLOPROSENCEPHALY-9, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, LIANG DISTAL MYOPATHY, ?N-ACETYLASPARTATE DEFICIENCY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, LEUKODYSTROPHY, HYPOMYELINATING, 6, EHLERS-DANLOS SYNDROME, TYPE VIIC, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, D-2-HYDROXYGLUTARIC ACIDURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9, PARAGANGLIOMAS 4, WAARDENBURG SYNDROME, TYPE 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, BARTTER SYNDROME, TYPE 4B, DIGENIC, BARDET-BIEDL SYNDROME 17, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, TRIMETHYLAMINURIA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, HYPERALDOSTERONISM, FAMILIAL, TYPE III, JOUBERT SYNDROME 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 3, TYROSINEMIA, TYPE I, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, GABA-TRANSAMINASE DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, PLEUROPULMONARY BLASTOMA, MUSCULAR DYSTROPHY, RIGID SPINE, 1, COENZYME Q10 DEFICIENCY, PRIMARY, 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, DYSTONIA-PARKINSONISM, X-LINKED, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, ROUSSY-LEVY SYNDROME, THYROID DYSHORMONOGENESIS 5, CARTILAGE-HAIR HYPOPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XV, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, DYGGVE-MELCHIOR-CLAUSEN DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, PONTOCEREBELLAR HYPOPLASIA TYPE 2A, HYPOMYELINATION, GLOBAL CEREBRAL, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, BRACHYOLMIA TYPE 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED SYNDROMIC, TURNER TYPE, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ?NARCOLEPSY 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, COCKAYNE SYNDROME, TYPE A, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, HYPOMAGNESEMIA 4, RENAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, ATELOSTEOGENESIS, TYPE I, SENIOR-LOKEN SYNDROME 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, ALBINISM, OCULOCUTANEOUS, TYPE IB, MECKEL SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, NEUROPATHY, INFLAMMATORY DEMYELINATING, VACTERL ASSOCIATION, X-LINKED, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, NEPHRONOPHTHISIS 4, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, GALLOWAY-MOWAT SYNDROME, NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME, MEIER-GORLIN SYNDROME 5, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ?POLYENDOCRINE-POLYNEUROPATHY SYNDROME, OBESITY, ADRENAL INSUFFICIENCY, AND RED HAIR DUE TO POMC DEFICIENCY, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, PARKINSON DISEASE 20, EARLY-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H, MECKEL SYNDROME 11, FOLATE MALABSORPTION, HEREDITARY, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, PANCREATIC AND CEREBELLAR AGENESIS, AICARDI-GOUTIERES SYNDROME 2, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, KENNY-CAFFEY SYNDROME, TYPE 1, PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, TRIGONOCEPHALY 2, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A, DYSTONIA 9, CYSTINOSIS, OCULAR NONNEPHROPATHIC, MOLYBDENUM COFACTOR DEFICIENCY C, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, SADDAN, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, RIDDLE SYNDROME, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY, SHWACHMAN-DIAMOND SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, OPTIC ATROPHY PLUS SYNDROME, CLEFT PALATE, ISOLATED, PICK DISEASE, DIGEORGE SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 12, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, SPINOCEREBELLAR ATAXIA 31, MEIER-GORLIN SYNDROME 3, DEMENTIA, FAMILIAL BRITISH, ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, PARIETAL FORAMINA 2, MECKEL SYNDROME 3, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, DESBUQUOIS DYSPLASIA 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, ROBINOW SYNDROME, CHOPS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, AORTIC ANEURYSM, FAMILIAL THORACIC 6, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, POLYCYSTIC LIVER DISEASE, SIALIC ACID STORAGE DISORDER, INFANTILE, MENTAL RETARDATION, X-LINKED 97, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), COMPLEMENT FACTOR I DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?HYDROXYKYNURENINURIA, MENTAL RETARDATION, X-LINKED 46, TUMOR PREDISPOSITION SYNDROME, JOUBERT SYNDROME 20, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, NEUROCUTANEOUS MELANOSIS, SOMATIC, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 4, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, TEMTAMY SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, JOUBERT SYNDROME 8, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, POPLITEAL PTERYGIUM SYNDROME 1, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, 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, MICROPHTHALMIA, ISOLATED 5, PARKINSON DISEASE 19, JUVENILE-ONSET, AGAMMAGLOBULINEMIA 2, WERNER SYNDROME, NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), PORETTI-BOLTSHAUSER SYNDROME, DEJERINE-SOTTAS DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, ?MICROPHTHALMIA, SYNDROMIC 11, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, JOHANSON-BLIZZARD SYNDROME, {MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1}, PRION DISEASE WITH PROTRACTED COURSE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, PAROXYSMAL EXTREME PAIN DISORDER, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 2B, USHER SYNDROME TYPE 3B, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RETINAL CONE DYSTROPHY 3B, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CEROID LIPOFUSCINOSIS, NEURONAL, 5, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5, SCLEROSTEOSIS 2, PEROXISOME BIOGENESIS DISORDER 9B, STIFF SKIN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, {GLIOBLASTOMA 3}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, AXENFELD-RIEGER SYNDROME, TYPE 1, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, MACULAR DYSTROPHY, PATTERNED, 1, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, MECKEL SYNDROME 6, LISSENCEPHALY 3, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, C8 DEFICIENCY, TYPE I, BETHLEM MYOPATHY 2, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, PARAGANGLIOMAS 5, WOLFRAM SYNDROME 2, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 29, VITAMIN D-DEPENDENT RICKETS, TYPE I, {AUTISM SUSCEPTIBILITY, X-LINKED 2}, MENTAL RETARDATION, X-LINKED, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, COFFIN-SIRIS SYNDROME 4, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, ?LAURENCE-MOON SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PREMATURE OVARIAN FAILURE 9, JOUBERT SYNDROME 14, VICI SYNDROME, NIEMANN-PICK DISEASE, TYPE A, COFFIN-SIRIS SYNDROME 2, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, INTRINSIC FACTOR DEFICIENCY, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, PREMATURE OVARIAN FAILURE 1, CORNELIA DE LANGE SYNDROME 1, {EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO}, {EPILEPSY, IDIOPATHIC GENERALIZED, 10}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, CONE-ROD DYSTROPHY 13, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 17, LOEYS-DIETZ SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 21, CANAVAN DISEASE, NEPHRONOPHTHISIS 15, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, MCKUSICK-KAUFMAN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, MYOCLONUS, FAMILIAL CORTICAL, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE, ?46XY SEX REVERSAL 5, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, ARTERIAL TORTUOSITY SYNDROME, ?JOUBERT SYNDROME 22, ?MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE, MICROCEPHALY, AMISH TYPE, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, MASA SYNDROME, CRASH SYNDROME, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, GAUCHER DISEASE, PERINATAL LETHAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HUNTINGTON DISEASE-LIKE 2, ACHROMATOPSIA 7, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, NEMALINE MYOPATHY 9, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EPISODIC ATAXIA, TYPE 5, FASCIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC, BROWN-VIALETTO-VAN LAERE SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 6, CZECH DYSPLASIA, MANNOSIDOSIS, BETA, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, MUCOLIPIDOSIS II ALPHA/BETA, CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE, CEREBROCOSTOMANDIBULAR SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, MUCOLIPIDOSIS III GAMMA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, [NOVELTY SEEKING PERSONALITY], MYOPATHY, MYOFIBRILLAR, 2, MYOPATHY, TUBULAR AGGREGATE, 1, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, USHER SYNDROME, TYPE IJ, SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE, ?HYPERPROLACTINEMIA, COENZYME Q10 DEFICIENCY, PRIMARY, 7, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, THYROID HORMONE RESISTANCE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, PSEUDOHYPOPARATHYROIDISM IC, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, SULFITE OXIDASE DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, HYPOGONADOTROPIC HYPOGONADISM 22, WITH OR WITHOUT ANOSMIA, LUJAN-FRYNS SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ?TRICHOTILLOMANIA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEU-LAXOVA SYNDROME 2, EPILEPSY, NOCTURNAL FRONTAL LOBE, 5, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, ARTHROGRYPOSIS, DISTAL, TYPE 2A, KOOLEN-DE VRIES SYNDROME, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, WAARDENBURG SYNDROME, TYPE 3, USHER SYNDROME, TYPE 1F, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SOTOS SYNDROME 2, SPLIT-HAND/FOOT MALFORMATION 1, TENORIO SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ?OTOFACIOCERVICAL SYNDROME 2, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER, TREMOR, HEREDITARY ESSENTIAL, 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, CHOREA, HEREDITARY BENIGN, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, SENIOR-LOKEN SYNDROME-1, NIEMANN-PICK DISEASE, TYPE C2, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OLIVER-MCFARLANE SYNDROME, TROYER SYNDROME, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLYCOGEN STORAGE DISEASE 0, LIVER, SECKEL SYNDROME 5, KNIEST DYSPLASIA, OPTIC NERVE HYPOPLASIA, MENTAL RETARDATION, X-LINKED 21/34, XERODERMA PIGMENTOSUM, TYPE 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, PERLMAN SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, IMMUNODEFICIENCY 8, SECKEL SYNDROME 9, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?PRECOCIOUS PUBERTY, CENTRAL, 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, CONE-ROD DYSTROPHY 10, ANGIOEDEMA, HEREDITARY, TYPES I AND II, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, WOLCOTT-RALLISON SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, MENTAL RETARDATION, AUTOSOMAL DOMINANT 30, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2, CEREBRAL AMYLOID ANGIOPATHY, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, MENTAL RETARDATION, X-LINKED 58, DEAFNESS, AUTOSOMAL RECESSIVE 84A, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID, CRANIOSYNOSTOSIS 6, MECKEL SYNDROME 4, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, CRANIOSYNOSTOSIS WITH RADIOHUMERAL FUSIONS AND OTHER SKELETAL AND CRANIOFACIAL ANOMALIES, BARDET-BIEDL SYNDROME 9, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, CARDIOFACIOCUTANEOUS SYNDROME 3, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

Associated genes: TCF12, TSC2, MSH6, CRIPT, VARS2, GPT2, FTL, GUSB, ADAMTS18, LRRK2, ALG3, SEMA4A, EGR2, PTRH2, SLC6A8, GNPTAB, SHROOM4, FREM1, COG6, OCRL, DNAI2, VAX1, CYP7B1, MYO18B, WWOX, ARHGEF10, VSX1, GCM2, ADH1B, GPR101, APOA1, FSHR, IDS, GSN, PAXIP1, DAG1, KLHL40, MARS2, SCP2, IRAK3, NR1I3, SPARC, SPEG, VPS33B, ITPR1, DDHD1, GSS, TNFSF11, CP, RMRP, ALDOA, PRKRA, PAX1, PRPS1, NDUFS3, IGLL1, RAB3GAP2, NOS1AP, PDYN, CEP290, NDUFAF2, FOXC1, CTDP1, PNPLA6, NDUFS7, GLDC, HES7, CCDC28B, SSR4, PI4KA, SLC19A2, KCNA2, TINF2, TANGO2, EPHB2, ACAT2, A2M, SLC6A17, EFNB1, FAR1, XRCC4, PTPN22, ADK, PARK7, TAT, CUL4B, GNAQ, HINT1, HNRNPK, NPHP1, PCDH15, PDE4D, FMN2, HPD, COMT, EPG5, FOXRED1, TFAP2B, SEMA3D, HNRNPA2B1, NLRP5, ERCC6, GRIN2B, AMT, MICU1, FANCL, ATXN3, ATP7A, POLR3B, DPM2, IQSEC2, TSC1, SOS2, NEFH, ACTG2, NDUFS2, CCBE1, UGT1A1, PEX14, DNM2, IRX5, TRAIP, NAA10, SBF2, MID2, RAI1, DGUOK, KIF2A, ST3GAL3, THAP1, VPS37A, IDUA, KIAA0319, TRPM6, FEZF1, NTRK2, MT-ATP6, TGFBI, PCNT, PRF1, CACNA1D, RRM2B, IGF1, PET100, ABHD12, SLC6A4, MAOA, SCN1B, SLC33A1, VAPB, SECISBP2, ALDOB, PIGM, ANO5, MYCN, ADAMTSL2, FGFR1, CHUK, POC1A, FASTKD2, EXOSC8, PTH, BBS2, KAT6B, MEN1, GDNF, COL5A1, STAC3, ETFDH, MCPH1, TNFRSF11A, GPHN, KAT6A, AASS, FBXO31, BBS12, DLAT, ALPL, NDUFB3, FMO3, DNAJB6, SLC30A10, UBR1, SC5D, NIN, ANKH, SMC1A, DHTKD1, ATXN1, KARS, CISD2, LHX4, OPTN, NIPA1, FREM2, GCLC, ATP13A2, TPRN, ARHGAP11A, NFKBIL1, MT-ND3, UQCC2, DYRK1A, AIMP1, XPR1, ZC4H2, ASCL1, SDHA, NTRK1, HYLS1, MFSD2A, DRD3, SPTLC1, TUBA4A, CACNA1C, RFX5, COL6A3, ETFA, GYS2, MT-TQ, PEX10, COG4, DUOXA2, CHRNB1, TUFM, PMPCA, SDHAF2, SNCB, SOD1, DDX59, F2, LAMA1, STT3B, ADSL, DNAAF3, IKBKG, HEXB, NRXN1, NDUFA1, VPS53, EPB41L1, BSND, ERCC8, VPS13B, ECE1, FMR1, NDRG1, PDP1, PNPLA2, ATP2B3, NOP56, PIK3CA, ALAD, UGT1A4, BMPER, PRKCG, KIAA1033, ERBB4, RARB, ACTA1, RAG1, GRIP1, NT5C2, SMARCA4, HTR1A, CBL, NDUFAF6, COQ4, FAM134B, ARMC4, IGF2, CLUAP1, GUCY2D, CCND1, SYT14, ADCK3, OPN1LW, HEXA, KDM5C, NLGN4X, CRLF1, ACAD9, CACNB2, GMPPA, SLC25A13, COG1, DPYD, TSHB, ABCB7, CENPJ, CASQ1, AP1S2, COX14, PANK2, ACVR1, TDP1, CDON, BSCL2, GDI1, DDX3X, SGCE, KCNMA1, KIAA0586, ACSF3, SLC22A5, PAX2, NAT8L, COG5, KCNK9, SLC9A6, KATNB1, CCL2, CNNM2, KRT8, FHL1, FOXC2, HCN1, FBN1, PEX19, MCOLN1, PTS, EIF2B2, CA8, STXBP1, FGFR3, POLG2, STAT2, SOX10, GABRG2, FAH, EMG1, THOC2, PDSS2, PRICKLE2, ADAT3, DPM1, B9D1, PRKCSH, ALX1, GFRA1, AP3B1, TGFB1, ERCC4, HFM1, TCF4, TYMP, KCNE2, PGAP3, GATM, SP110, SCN11A, COL18A1, VAMP1, EDNRB, COQ6, EIF2AK3, CEP19, AGPAT2, PSPH, SLC25A12, ATXN7, PLAU, MPV17, HLCS, CD96, KISS1, ICK, ST14, CHRNB2, ACOX1, ZBTB24, SRD5A3, NDUFA11, GDF6, ERCC1, COL9A2, MLH1, AGTR1, PHYH, GAN, CWF19L1, PGK1, DDR2, RYR2, BMP4, DACT1, SUFU, ALG2, SCN8A, AARS, ERCC2, COL13A1, RSPH1, TTPA, BBS5, OPA3, NDUFB9, CNTNAP1, THRB, TGDS, RAF1, WNT7A, DVL3, CHD7, SETD5, TP53, DNAJC5, WRN, GLUL, DNAL1, LYRM7, LHX3, BCKDHA, RSPH4A, MEGF10, IFNG, PRX, FANCG, GNAT2, RELN, OFD1, TGFBR1, EP300, ATP6V0A2, GCDH, MAX, GDAP1, UBB, POMT2, ARL6, BBS9, NFIX, TRAF3IP1, PCK1, CEP83, TCN2, TNFRSF13B, TM4SF20, IL1RAPL1, TTC21B, SLC7A9, SFXN4, MRPS16, MC2R, CLN6, VPS35, LIG3, CIB2, TAF2, ZNF711, SLC25A4, RNASEH2B, PSAT1, UBQLN2, SYP, SLC12A5, GAA, GLE1, CRBN, NGF, CRYGC, HCCS, ASL, CEP41, TRAPPC11, CACNG2, SPG11, WDR62, BRF1, PALB2, STX1B, C19orf12, GRHL2, INSR, KIAA0196, SCN9A, ARID1A, RNASET2, MSH2, C10orf2, GLA, PMS2, STIL, TACO1, SLX4, FGF20, EXOSC3, WDR45, GABRA2, DNAJC3, FAT3, MTHFD1, NHP2, CHKB, MTRR, SHH, NDUFA10, PROS1, PHGDH, LMNA, BCKDHB, ACADS, MID1, NALCN, CIITA, SORL1, SPG21, RBBP8, KIF11, TRMT10A, UBA1, NSDHL, KCNH2, PAFAH1B1, KDM6A, APOPT1, LRAT, RAB7A, JPH1, TRIM32, PNPO, ASPM, TYROBP, PEX2, SLC4A4, LIPT1, SPECC1L, MBD5, EVC, VLDLR, F7, SIK1, CDH15, KCTD17, PITPNM3, THRA, C5, ASAH1, CST3, LEP, OPHN1, AGRN, AIFM1, DSP, SMARCE1, DHH, NTHL1, TNNT1, AAAS, SGSH, CYP11B2, MKKS, HYDIN, TUBGCP4, MAG, PSAP, XPNPEP3, C12orf57, DEAF1, GAMT, ARG1, KCNC1, MT-CO1, MGME1, HSPB3, CTNNB1, HMBS, SMAD4, YARS, HDAC6, SLC6A5, NKX2-1, CLCN2, PPP2R1A, TUBB, TCTN1, ARHGEF6, BBS7, RFXAP, AIP, SETD1A, RAD50, ALX3, BRIP1, CLPB, ARID1B, ZNF423, GLI3, RBMX, MT-TH, NOTCH3, GH1, GABRB3, SPINK5, TAC3, STAG3, ZFPM2, GIF, GNAO1, HGSNAT, PIGA, PIGL, LAMA2, AP4M1, THBS4, RARS, PLCB1, MT-CO2, D2HGDH, PTPRQ, COL6A1, TPK1, FTSJ1, FKTN, MMADHC, SNX14, DMXL2, GPX4, RAB40AL, BDNF, RNF113A, CHAT, SOX11, JAM3, HLA-DQB1, NR3C1, IFT27, SDHB, MCM8, HSPB8, SIGMAR1, DICER1, ARMC5, APOB, TECPR2, CPT2, SCRIB, MFN2, KIF1C, TTR, MOCS2, CHCHD10, KLHL3, B3GLCT, AP4B1, TMEM237, PDE11A, ABCD1, TMEM231, WNT10A, KCNA1, ST3GAL5, NDUFB11, PGAP1, CDT1, GALNS, DNAI1, SPAST, KIRREL3, NR2E3, ZNF408, RPIA, SF3B4, MTO1, KYNU, ACAN, SLC26A2, HOXB1, SLC26A4, APOL4, TFAP2A, TMEM240, XPA, PDE8B, ZIC2, IDH2, SLC19A3, CTSC, LDHA, EDNRA, ECM1, MEF2C, C9orf72, POLG, NHS, MSX2, KIF5C, NLRP3, SERPINI1, JUP, PIKFYVE, SOX9, PADI4, CACNA1A, EFHC1, L2HGDH, WDPCP, FA2H, FANCA, RB1, B4GALT7, ATF6, GCK, RNF170, STIM1, KCNB1, TCOF1, DNAH8, TTC19, CBS, GHR, GMPPB, TAZ, UBE3B, SLC52A2, TPP1, AKAP9, DRD2, PLP1, VDR, FIBP, PARK2, COQ9, CELSR1, ARL6IP1, VANGL2, PDCD10, FARS2, QDPR, GUCY1A3, KIT, SCYL1, IVD, CLCF1, PEX1, C21orf59, MTFMT, COL5A2, PNKD, PEPD, GNAL, KMT2D, VCP, C4B, ZFYVE26, SLC52A3, KCNJ8, ERMARD, BLM, LRP5, PUS1, ATP1A3, POLR1C, AGA, SLC6A1, PEX16, STRA6, SMAD3, MTMR14, ALDH18A1, HSPG2, ESR1, ISCA2, DYRK1B, CHRNA4, MMP2, MYH14, IGBP1, LARGE1, SOX3, ATRX, CYP27A1, CTSA, RSPH3, RPS26, ATP6V1B2, AGT, SEPT9, MAGEL2, FOXI1, NPHP4, RPGRIP1L, SMN2, MANBA, AR, ALG1, BCOR, SEPSECS, COL10A1, KCND3, NPC1, ACSL4, SPAG1, HNRNPA1, SERPING1, CD59, PRPH2, POMGNT2, SLITRK1, PRKAG2, CEP152, LDB3, FANCD2, VRK1, MOG, GBE1, UROC1, DCX, TWIST2, BCKDK, GPC3, NDUFAF4, MRPS22, ANOS1, KCNJ18, NOTCH2, PARN, TIA1, CAD, NPC2, CNTNAP2, MT-TK, GALT, GFPT1, CYP26B1, PSMB8, DLX5, APTX, POGZ, CNNM4, LRSAM1, MPC1, PRICKLE1, PNPLA8, ALDH5A1, FGD4, CREBBP, CLDN16, RPS6KA3, TFG, TMLHE, INS, MOCS1, COX7B, FAM20C, ATL1, SETBP1, KIF14, COX6A1, SLC25A19, LMX1B, TSFM, YAP1, CNTN1, SNTA1, VHL, SNRPB, SMARCAL1, CLCN1, SEMA3A, ADAMTS2, SMS, METTL23, ALOX12B, DCTN1, TERT, TRPM7, H19, GHRHR, F13A1, PIK3R5, EHMT1, CPA6, CCNO, COL12A1, CHEK2, DHCR7, FAT4, PHKG2, HPCA, RTN4IP1, GFER, DNASE1, STAMBP, RCBTB1, TMEM127, ENTPD1, BBS1, CENPE, ATM, SLC1A4, C10orf11, GBA, SUCLG1, TSEN34, ACD, STRADA, TARS2, XK, TMEM165, HRAS, OCLN, VPS45, GRIK2, PRLR, SLC12A3, DHFR, MFSD8, NSD1, CHI3L1, BRCA2, DISC1, DRD4, ZFYVE27, TSHZ1, YARS2, SLC1A3, NBN, HAX1, ACAT1, TAS2R16, ARHGEF9, KISS1R, TK2, CDKN2A, ARFGEF2, CLPP, COX20, NDUFV2, SIX3, AFG3L2, COL4A2, FGD1, OAS1, AUH, MATN3, ABHD5, MATR3, FBXO7, ERBB2, SMARCA2, EXT1, CALM1, TAF1, NLRP12, ZNF592, TUBA1A, NKX2-5, IDH1, GAS1, LMNB1, SLC16A1, TPM3, DNAJB2, GARS, PTCH2, CANT1, SPG20, KRT18, CLCN7, MPL, PYCR1, ZIC3, COX4I2, TUBG1, HSPB1, SLC4A1, SLC7A7, ADGRV1, PROKR2, GLUD1, PAX8, QARS, PLA2G6, REN, SHOC2, MYH3, WDR81, COL4A1, INF2, SGCA, KCNQ1OT1, MECP2, PDCD1, ATPAF2, DOK7, DNAJC6, ANKLE2, TG, HTRA2, BBS10, POLR2F, CCND2, EXT2, RMND1, PPOX, IGF1R, NEFL, ZBTB18, GABRA1, AMPD2, TBC1D7, MT-TS1, GATA6, LITAF, ARSB, ZDHHC15, TBX15, ACVRL1, PNPT1, CRB2, PAH, DEPDC5, NDUFAF1, NDE1, POLR3A, TUBGCP6, GRIN1, PMP22, PDHA1, SLC34A3, ETFB, ANK2, PRKACA, GALC, TRPS1, TUSC3, SRPX2, RPGR, DRD5, CDKN1B, FANCC, MT-ND5, DPAGT1, PNP, DCC, ACO2, PGM3, DNMT3B, COL4A3BP, MYH11, EDC3, RNF168, ANK3, MMAA, PORCN, CORO1A, CA2, ADAMTS13, APP, AMACR, PIGW, CC2D2A, LBR, CUL3, LAMB1, KRIT1, HDC, SLC6A3, CDC6, CLN3, IL17RD, GALK1, TCTN3, RANBP2, ESCO2, MCCC1, FH, PHF8, AGK, TTC8, PRKCH, POR, TGFBR2, FUZ, P3H1, TGIF1, SLC6A19, PTEN, MYOT, VANGL1, NF2, SCN4A, TRPV4, SLC39A8, SHMT1, SYNE1, MT-ND6, ALG11, HCN4, ORC6, IL10, KCNJ1, RNASEH2A, MFRP, CNTN5, HSPD1, MT-CYB, ABCD4, ADGRG1, GAD1, TNNT2, SH2D1A, FBXL4, HTR2A, ANKRD11, FXYD2, PDE6C, CHST6, SYT2, RBM28, LIAS, HNF1B, NDUFA12, NLGN3, CHST14, CEP63, RAX2, PSEN2, CTSD, COLQ, NUP62, PNKP, DBH, FLVCR1, MMACHC, ICR1, HDAC8, SH3PXD2B, COX15, SCN2A, SLC19A1, PEX13, PEX5, ECHS1, MUSK, XPC, ZMYND11, CYP2U1, AHDC1, PER2, ADAR, SDHAF1, CSF1R, SLC2A1, SLC9A1, TGM6, SLC46A1, OSMR, ERCC6L2, SLC17A5, PIK3R2, PUF60, RFXANK, PDHX, DNAAF1, NSMF, DYX1C1, ENG, PDSS1, MED25, HMGB3, PCCA, BRWD3, KIF7, MT-TF, FKRP, PAK3, JAK3, CCDC88C, DRAM2, CTCF, CUBN, POMK, TYR, DHCR24, SLC6A2, RDH11, BEAN1, COL11A1, EXOC8, NOP10, SKI, B3GALNT2, MITF, GJB6, TREX1, LRP4, ORC4, TH, ALOX5AP, POMT1, F5, SEMA3E, MLC1, PSEN1, JPH3, SNX10, PCCB, ZIC1, CCT5, WNK1, ACY1, SLC2A2, KMT2A, HADH, SLC25A1, PTRF, SPTAN1, PODXL, MT-CO3, KCNE3, CACNB4, USP8, GNAI2, CLP1, ATN1, DCPS, MED23, FOXL2, SERPINA1, PDK3, CABP4, C12orf65, TTC37, GNS, SACS, PLOD3, SCARB2, SNIP1, CFL2, GTPBP3, KCNE1, B9D2, ATXN8, EARS2, RIT1, ADAMTS10, RBM10, MYT1L, EDN3, TCIRG1, ANO10, AP4E1, RAB18, STX11, BOLA3, BRAF, SNAP25, PIGV, GNPTG, UBE2A, RSPRY1, TMEM70, SMAD9, GUCA1A, SNRPN, CYP27B1, KLC2, EEF2, NFKB2, ALDH3A2, KCNJ5, B4GALNT1, F10, TNFRSF11B, SCN4B, SOX2, SLC5A7, NAGLU, PEX3, CNGA3, STAT5B, SLC16A2, CLIC2, TCTN2, LMNB2, SLC20A2, SEC24D, CNGB3, KCNH1, MAF, KANSL1, TUBB4A, DYNC1H1, IFT140, OTC, SH2B3, COL6A2, CHRNE, C8A, SLC12A6, ACTG1, IRF6, ASXL1, KCNJ10, HOXA1, MYBPC3, PCLO, PEX7, MUT, RNF216, SERAC1, NIPBL, ZSWIM6, IL6, PIK3R1, CRYAB, COLEC11, HCFC1, APC, KIF1BP, ASPA, SMOC1, MGP, REEP2, CCDC151, FCGR2A, TNNI3, CAMTA1, PLCB4, C3AR1, ADRA2B, SASS6, IFIH1, FUCA1, SQSTM1, TBX19, RNASEH2C, PEX6, MUC1, CAV1, PMM2, GNAI3, MGAT2, CDK5, ZEB2, SLC24A5, NEB, FGF3, PDE6D, COL1A1, JAG1, SBDS, KBTBD13, GRID2, COL2A1, BAP1, GLI2, NUBPL, AMN, RUNX1, STT3A, LZTR1, SLC39A4, TACSTD2, MAPT, KIF5A, AP4S1, ATXN10, MOGS, HADHA, JAK2, PLOD1, POLH, MMP13, CACNA1F, DSE, ERCC5, SAMHD1, UQCRQ, NDUFA9, DKC1, NDUFV1, ALX4, ABCC8, HUWE1, GNB4, DDHD2, EMD, HPRT1, FBXO38, SMCHD1, SDHD, GPR143, FAM111A, HLA-DRB1, SLITRK6, GAL, BICD2, ACP2, BCS1L, RAPSN, MCM9, LTBP2, PLK4, HIBCH, PHC1, SETX, FUS, COQ2, ZDHHC9, DNA2, RTN4R, LAMC3, ALG14, HNF1A, ACADSB, DDB2, MTTP, AMER1, CHRND, SLC13A5, PURA, GRIN2A, FGF14, SMARCB1, DOCK8, FOXG1, SYNJ1, FAM126A, TRAPPC9, FADD, HERC2, ATP5E, CBX2, SLC1A1, THOC6, DRC1, CACNA1S, UCHL1, IYD, SMC3, TSEN54, NDUFAF5, HTRA1, DISC2, ISPD, SLC36A2, TSPAN7, HCRT, DDC, DNAJC19, CNBP, CHRNG, PABPN1, PIGT, MYD88, CKAP2L, EBP, RAB27A, RNASEH1, MYO5A, SLC5A5, OTX2, ALB, ELAC2, SLC35A2, COX10, SLC25A22, PLG, MAN2B1, CCDC103, IBA57, NDUFS8, DARS, HAL, SNAI2, SLC3A1, PDGFRB, MTMR2, XYLT2, EIF2B4, HLA-DQA1, PTCH1, ACE, KRAS, LGI1, PAX6, IFT172, CPOX, EPHX1, POU1F1, PRRX1, TARDBP, DOCK6, MT-ND2, CCDC114, ITM2B, ASS1, MT-TD, RAB3GAP1, HTT, AVPR2, CCDC22, RAD51, AP1S1, NDUFA2, SH3TC2, ZBTB16, EYA1, NDST1, KLHL41, CYP24A1, ZMYND10, SPATA5, ALDH2, ARHGAP31, TUBA8, TCAP, LARS, NARS2, DYSF, SPR, PFN1, PRODH, CSPP1, TGFB3, DAOA, CASR, CTLA4, DMD, CHRNA1, DPM3, PYCR2, LAMA4, FBLN5, TUBB2A, PRKDC, NDUFS1, DTNBP1, CFI, RBM8A, MED12, SEC63, NDUFS6, TOR1A, CRX, MCM4, ATP7B, ATP8A2, B3GALT6, ACADM, SHANK3, DDOST, LMBRD1, GJB1, NMNAT1, SUMF1, MT-ND4, DNAJC13, BIN1, PCDH19, HSD17B4, CYP11A1, PRNP, RPL35A, SCN5A, CASK, FXN, AKT3, EIF2B3, DIAPH1, FGFR2, UQCC3, UBE3A, CPT1A, KCNV2, GCH1, MYH8, L1CAM, DIP2B, ELOVL5, RET, SPTBN2, NTF3, KCNJ2, RNF125, CFHR1, ASXL3, ADCY6, RFT1, GOSR2, ATIC, PLEKHG4, KCNQ2, ARSA, APOE, SUOX, TMEM216, WDR73, NGLY1, GNAS, WNT5A, COL3A1, ANO3, DOCK7, EVC2, ETHE1, VMA21, GLYCTK, LHCGR, COG8, PIEZO2, NOG, DST, KIF1B, ITGA3, TBC1D24, NAGS, MLYCD, GLRB, POMGNT1, RTN2, ARSE, AP5Z1, SBF1, GIGYF2, MKS1, KMT2C, TRMT5, DYNC2H1, TPM1, LAMP2, ERBB3, NDUFAF3, CEP135, PHKA2, CHMP1A, IRF5, LONP1, P4HB, GATAD2B, CHAMP1, ALDH7A1, HS6ST1, BUB1B, GM2A, ABAT, TSEN2, KIAA2022, TAF6, BTD, CTSF, MRE11A, TUBB2B, COMP, SUCLA2, MAT1A, TECR, ROR2, FCGR2B, NOL3, T, PPP2R2B, TP63, CYB5R3, DNMT3A, FAM177A1, SLC12A1, GATA1, MAN1B1, LMOD3, FANCE, MT-TE, MTHFR, TMCO1, SLC25A15, TPM2, ASNS, IARS2, PITX2, PQBP1, CASQ2, MYO7A, AKT1, TPI1, LRPPRC, MASP1, LARP7, VPS13A, EZH2, TWIST1, DNAH1, GNE, DPP6, POMC, NOD2, CTC1, MTM1, GJC2, POLA1, CHST3, EIF2B5, SPTLC2, TMEM5, PINK1, SEPN1, ACADVL, PIGN, DNAL4, PEX12, B4GALT1, SPG7, DMPK, NR4A2, IER3IP1, PTPN11, NDUFS4, DNAAF2, COCH, WISP3, NEU1, MAPRE2, ANG, CLCNKB, GLRA1, SYNGAP1, BRAT1, CDK5RAP2, SLC6A20, FBP1, GTF2H5, EPM2A, PRDM5, HADHB, SURF1, MMAB, NHLRC1, ACTB, GRN, CACNA1B, COL1A2, GBA2, DNM1, GFAP, GPSM2, IRF3, ITGA2B, PROP1, G6PC3, MYH7, ELP4, ZBTB20, CD244, BAG3, PROK2, TRNT1, DES, MPO, RUBCN, KCNT1, TERC, ARHGDIA, NRAS, CHD2, IKBKAP, IL2RG, CUL7, KIF1A, FIG4, RPS28, BLMH, DSG2, SGCD, CLCNKA, GABRD, MIR17HG, NME1, SP7, NOTCH1, ERCC3, ATXN8OS, CSTB, GPI, AVP, AFF4, MVK, GK, CARD9, SPRED1, C2CD3, ZNF81, HARS, RBPJ, GDF1, ACTA2, VIPAS39, TSR2, UPF3B, ARNT2, MC4R, BMP1, FOLR1, MT-TL1, TREM2, DARS2, CTNS, SLC29A3, PTH1R, PEX11B, HMGCL, NDN, FOXP3, OSTM1, NPHP3, FOXP1, CASC5, FRAS1, TMEM138, LRP2, MN1, SNCA, HK1, MYH2, CDKL5, KIF4A, DLG3, TTI2, PPP2R5D, PAX3, ATP2A2, MRPL3, B3GAT3, KIF22, SOST, MPDZ, MTR, TBCE, SCO1, NOS3, DNMT1, FGF8, SLC5A2, PCNA, GHSR, OTOF, TMEM67, ARL13B, EPOR, CHRNA2, SLC25A20, SOBP, ROGDI, SATB2, DCAF17, DCHS1, PHEX, PKD1, DCAF8, SALL1, RAD21, ALDH6A1, CDK6, EFTUD2, KCNJ6, RAB39B, DNAH5, RECQL4, TSPYL1, EIF4A3, NADK2, IGHMBP2, MTPAP, DPYS, SALL4, ITCH, ARX, LAMB2, MMP1, FANCM, PLEKHG5, CRADD, MBTPS2, ABCA1, COX8A, CC2D1A, LZTFL1, TBK1, AHNAK, RAG2, EGF, NECAP1, AFF2, ITPR3, PLEC, SLC2A10, SMN1, PTF1A, TNF, SNAP29, SDHC, EDA, KANK1, ATP1A2, GFM1, PRSS12, PROC, ORAI1, SNCAIP, SLC25A46, DNM1L, EEF1A2, NR2F1, FKBP14, DYM, WDR11, SLC22A4, WAS, SLC35A3, PAM16, COL11A2, COL7A1, GLB1, SMPD1, HESX1, HSD17B10, PTDSS1, FOXP2, SDCCAG8, ZNF335, FLNA, TBC1D20, MAB21L2, GNA11, USP9X, CEP164, BRCA1, TUBB3, PTCHD1, C8B, MNX1, ATP5A1, ALDH1A3, TRPM4, CHMP2B, SCN1A, DBT, PIGO, TTN, TSHR, RPS19, AQP2, ALMS1, CFH, FANCB, ALG6, AHI1, SERPINC1, KCNQ1, KCNQ3, BAAT, STUB1, PDE6H, EIF2B1, WNT3, BCL10, CPT1C, ERF, TBP, PDGFRA, NEK1, TBX1, PPT1, ATP6AP2, ZHX2, ABCC9, TRH, AUTS2, GRM1, MT-ND4L, UPB1, MT-TS2, RARS2, ADNP, PGAP2, ALDH4A1, MPLKIP, TRIM37, PRRT2, FLNB, ALG13, PDGFB, SRCAP, MAP2K1, CARS2, POLR1A, BBIP1, DIS3L2, TTBK2, PRPH, ORC1, BCAP31, ITGB3, TBX3, PPARG, CERS1, DAO, MCIDAS, PRKAR1A, SZT2, OPN1MW, BTK, COX6B1, CLASP1, EFEMP2, NF1, MEFV, XYLT1, CECR1, WFS1, DLD, UMPS, CPS1, CLN8, GRIA3, TIMM8A, CYP2R1, HEPACAM, RPGRIP1, CDHR1, ABCA12, SYN2, CAPN3, GLUD2, LYST, CA5A, LINS1, LPIN1, RYR1, LTC4S, MORC2, AKT2, AGXT, MARS, EIF4G1, DDX11, AARS2, NSUN2, CCM2, ELOVL4, WNT1, MPZ, SLC35C1, RTTN, NDP, SYN1, LEPR, REEP1, PCBD1, CCDC78, CLN5, ADCY5, NFU1, RNU4ATAC, FLNC, KCNJ11, GJA1, CFHR3, FTCD, INPP5E, ALS2, COL17A1, KPTN, TGFB2, ATCAY, TRIM2, SIX1, FBN2, PEX26, GALE, TRPC3, C5orf42, GYS1, PHOX2B, MED17, ABCC6, COASY, ATL3, CDKN1C, APOL2, GCSH, SIL1, RPE65, FKBP10, WDR34, NPPA, KCNC3, ADH1C, ERLIN2, RUNX2, SAR1B, SCO2, GORAB, CNTN2, RAB23, GJB2, BBS4, ATR, ATXN2, ZAK, PHF6, AHCY, SLC39A13, KCTD7, CEP57, DIAPH3, FLVCR2, PACS1, APBB2, LIFR, GNPAT, RTEL1, OPA1, PC, DOLK, ITGA7, NAGA, MPDU1, GNRH1, EMX2, MT-ND1, B4GAT1, FTO, KDR, HFE, MAP2K2