NEUROLOGIC


It has 2154 associated diseases.

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Associated diseases: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ACHONDROPLASIA, 46XY SEX REVERSAL 9, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CEROID LIPOFUSCINOSIS NEURONAL 6, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, DYSAUTONOMIA, FAMILIAL, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, CATEL-MANZKE SYNDROME, CARPENTER SYNDROME 2, ARTHROGRYPOSIS, DISTAL, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), JOUBERT SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, INCONTINENTIA PIGMENTI, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HOLOPROSENCEPHALY-4, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, SECKEL SYNDROME 7, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8, CK SYNDROME, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, 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, NEUROFIBROMATOSIS, TYPE 1, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, 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, ?CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 4, CRANIOMETAPHYSEAL DYSPLASIA, HYPER-IGD SYNDROME, ?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, 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, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, 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, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 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, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, MYOCLONIC-ATONIC EPILEPSY, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, 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, MARFAN LIPODYSTROPHY SYNDROME, SICKLE CELL ANEMIA, 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, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, PORENCEPHALY 1, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?SECKEL SYNDROME 6, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, COACH SYNDROME, ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {PARKINSON DISEASE 17}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27, NEMALINE MYOPATHY 5, AMISH TYPE, STORMORKEN SYNDROME, MENTAL RETARDATION, X-LINKED 1, PROPIONICACIDEMIA, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, 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, CINCA SYNDROME, SOTOS SYNDROME 1, 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}, ACETYL-COA CARBOXYLASE DEFICIENCY, AMYLOIDOSIS, FINNISH TYPE, HARP SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, 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, ?IMMUNODEFICIENCY 45, 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, ?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}, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, 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, LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA, SPINOCEREBELLAR ATAXIA 38, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 3, BRANCHIOOCULOFACIAL SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, LESCH-NYHAN SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, 3MC SYNDROME 1, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, JOUBERT SYNDROME 6, {SPECIFIC LANGUAGE IMPAIRMENT 5}, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, IRIS HYPOPLASIA AND GLAUCOMA, IRIDOGONIODYSGENESIS, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, 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, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, JOUBERT SYNDROME 8, ISOVALERIC ACIDEMIA, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, SJOGREN-LARSSON SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, 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, WILSON DISEASE, SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT, 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, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, 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), 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, TIMOTHY SYNDROME, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, CENTRONUCLEAR MYOPATHY 5, YUNIS-VARON SYNDROME, 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, GERODERMA OSTEODYSPLASTICUM, COMBINED SAP DEFICIENCY, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, 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, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, USHER SYNDROME, TYPE 1F, 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, 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, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, 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, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OPITZ-KAVEGGIA SYNDROME, SENGERS SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, 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, AICARDI-GOUTIERES SYNDROME 5, CONGENITAL DISORDER OF DEGLYCOSYLATION, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, ESCOBAR SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, BONE MARROW FAILURE SYNDROME 2, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA, LEUKODYSTROPHY, HYPOMYELINATING, 3, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, ?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, 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, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, GLUCOCORTICOID RESISTANCE, PRIMROSE SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, PELGER-HUET ANOMALY, PARAGANGLIOMAS 2, TRANSALDOLASE DEFICIENCY, BARDET-BIEDL SYNDROME 6, LUSCAN-LUMISH SYNDROME, FEBRILE SEIZURES, FAMILIAL, 11, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ?PONTOCEREBELLAR HYPOPLASIA TYPE 5, SMITH-MCCORT DYSPLASIA, SENIOR-LOKEN SYNDROME 8, LYMPHEDEMA, HEREDITARY, III, 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, LANGER MESOMELIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13, HUNTINGTON DISEASE, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 39, SECKEL SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA, ?MECKEL SYNDROME 9, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, ADAMS-OLIVER SYNDROME 3, JOUBERT SYNDROME 2, MUCOPOLYSACCHARIDOSIS II, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, CITRULLINEMIA, ADULT-ONSET TYPE II, BARDET-BIEDL SYNDROME 16, 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, MENTAL RETARDATION, X-LINKED 94, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, BJORNSTAD SYNDROME, HYPEREKPLEXIA HEREDITARY, BARTTER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED 46, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, FUMARASE DEFICIENCY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, 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, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, 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, {PARKINSON DISEASE 18}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, GALACTOSEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI ANEMIA, COMPLEMENTATION GROUP L, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, RENPENNING SYNDROME, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, 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, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GLUCOCORTICOID DEFICIENCY 4, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, HAMAMY SYNDROME, ATAXIA-OCULOMOTOR APRAXIA 4, SPINOCEREBELLAR ATAXIA 42, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DEAFNESS, AUTOSOMAL RECESSIVE 2, DENT DISEASE 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, SUPRANUCLEAR PALSY, PROGRESSIVE, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT, GLUTARICACIDURIA, TYPE I, ACRODERMATITIS ENTEROPATHICA, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, DANON DISEASE, VAN BUCHEM DISEASE, CORNELIA DE LANGE SYNDROME 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CEROID LIPOFUSCINOSIS, NEURONAL, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, DEMENTIA, FAMILIAL DANISH, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, FILIPPI SYNDROME, NEMALINE MYOPATHY 6, AUTOSOMAL DOMINANT, GAUCHER DISEASE, TYPE IIIC, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, INSOMNIA, FATAL FAMILIAL, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI, LEUKODYSTROPHY, HYPOMYELINATING, 11, MICROPHTHALMIA, SYNDROMIC 2, LARSEN SYNDROME, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, 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, 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, NEURODEGENERATION WITH BRAIN IRON ACCULULATION 5, ATAXIA, CEREBELLAR, CAYMAN TYPE, NANCE-HORAN SYNDROME, ?WEBB-DATTANI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, WIEDEMANN-STEINER SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, EIKEN SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, 3-METHYLGLUTACONIC ACIDURIA, TYPE III, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPERPROLINEMIA, TYPE II, SPINOCEREBELLAR ATAXIA 6, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS, 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, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, 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, 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, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, KARTAGENER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, 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, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, 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, 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, WIEACKER-WOLFF SYNDROME, 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, TREACHER COLLINS SYNDROME 2, CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, MEIER-GORLIN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, ANAUXETIC DYSPLASIA, ARGININOSUCCINIC ACIDURIA, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, SPINAL MUSCULAR ATROPHY-2, ?OTOFACIOCERVICAL SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE XVII, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, MENTAL RETARDATION, X-LINKED 12/35, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SHPRINTZEN-GOLDBERG SYNDROME, OROFACIODIGITAL SYNDROME IV, OROFACIODIGITAL SYNDROME V, {PANIC DISORDER, SUSCEPTIBILITY TO}, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, RAINE SYNDROME, ?SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID, 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, CRANIOSYNOSTOSIS, TYPE 2, NOONAN SYNDROME 9, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, SPINOCEREBELLAR ATAXIA 8, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, FRAXE, LEUKODYSTROPHY, HYPOMYELINATING, 2, MUCOPOLYSACCHARIDOSIS IH, 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, SYMPHALANGISM, PROXIMAL, 1A, 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, TRICHOHEPATOENTERIC SYNDROME 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, NOONAN SYNDROME 10, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, PAROXYSMAL EXTREME PAIN DISORDER, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, 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, ASPARAGINE SYNTHETASE DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 3, LEUKODYSTROPHY, HYPOMYELINATING, 9, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, ADAMS-OLIVER SYNDROME 4, BARDET-BIEDL SYNDROME 5, RETT SYNDROME, CONGENITAL VARIANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII, 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, SENIOR-LOKEN SYNDROME 9, GLYCOGEN STORAGE DISEASE 0, MUSCLE, CAPOS SYNDROME, GRISCELLI SYNDROME, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GAUCHER DISEASE, TYPE III, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, WARBURG MICRO SYNDROME 3, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BASAL CELL NEVUS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ?ACAT2 DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, GLASS SYNDROME, MYOPATHY, CENTRONUCLEAR, 4, BROWN-VIALETTO-VAN LAERE SYNDROME 2, JOUBERT SYNDROME 25, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), FANCONI ANEMIA, COMPLEMENTATION GROUP E, WARBURG MICRO SYNDROME 2, MORBID OBESITY AND SPERMATOGENIC FAILURE, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, ?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, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 4}, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, HMG-COA LYASE DEFICIENCY, BARDET-BIEDL SYNDROME 7, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, MECKEL SYNDROME 10, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSON DISEASE 1, ?MENTAL RETARDATION, X-LINKED 100, DEMENTIA, FAMILIAL, NONSPECIFIC, AGNATHIA-OTOCEPHALY COMPLEX, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, TEMPLE-BARAITSER SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, PONTOCEREBELLAR HYPOPLASIA TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34, EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS, 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}, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AL-RAQAD SYNDROME, COLD-INDUCED SWEATING SYNDROME 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?JOUBERT SYNDROME 26, ?PERIVENTRICULAR NODULAR HETEROTOPIA 6, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, NASU-HAKOLA DISEASE, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), CYSTATHIONINURIA, ?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, D-2-HYDROXYGLUTARIC ACIDURIA, PORENCEPHALY 2, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, OROFACIODIGITAL SYNDROME I, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ?SNEDDON SYNDROME, SPINOCEREBELLAR ATAXIA 12, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, FARBER LIPOGRANULOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (KALLMANN SYNDROME 1), APERT SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, {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, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, C8 DEFICIENCY, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, KUFS TYPE, ADULT ONSET, 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, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, ZIMMERMANN-LABAND SYNDROME 2, EPILEPSY, PROGRESSIVE MYOCLONIC 1A (UNVERRICHT AND LUNDBORG), ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, 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, 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, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?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, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, ?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, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, VAN MALDERGEM SYNDROME 1, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SPINOCEREBELLAR ATAXIA 13, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, INFANTILE LIVER FAILURE SYNDROME 2, WEAVER SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, 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, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 3, SED CONGENITA, JAWAD SYNDROME, BEAULIEU-BOYCOTT-INNES SYNDROME, HYPEREKPLEXIA 3, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, 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, SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, CRANIOECTODERMAL DYSPLASIA 2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, LISSENCEPHALY 3, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, ABETALIPOPROTEINEMIA, MYOPATHY, MYOFIBRILLAR, 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, KENNY-CAFFEY SYNDROME, TYPE 2, 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, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ATAXIA-OCULOMOTOR APRAXIA 3, KABUKI SYNDROME 1, [SHORT SLEEPER], PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VERHEIJ SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MANNOSIDOSIS, ALPHA-, TYPES I AND II, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 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, DEAFNESS, AUTOSOMAL DOMINANT 11, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, 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, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, 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, KBG SYNDROME, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SPEECH-LANGUAGE DISORDER-1, LEBER OPTIC ATROPHY, RHEUMATOID ARTHRITIS, CRANIOSYNOSTOSIS 3, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, ?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, VIBRATORY URTICARIA, 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, HEIMLER SYNDROME 2, 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, TREMOR, HEREDITARY ESSENTIAL, 5, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ENDOCRINE-CEREBROOSTEODYSPLASIA, 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, WARBURG MICRO SYNDROME 4, NEPHRONOPHTHISIS 18, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, 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, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 52, ?SPINOCEREBELLAR ATAXIA 34, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ADAMS-OLIVER SYNDROME 2, 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, MUCOLIPIDOSIS III ALPHA/BETA, HYPERLYSINEMIA, VAN MALDERGEM SYNDROME 2, DICARBOXYLIC AMINOACIDURIA, SMITH-MAGENIS SYNDROME, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DEAFNESS, X-LINKED 5, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT, SACCHAROPINURIA, SED, MAROTEAUX TYPE, TARP SYNDROME, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, ROIFMAN SYNDROME, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2, EPISODIC PAIN SYNDROME, FAMILIAL, HETEROTOPIA, PERIVENTRICULAR, PARKINSON DISEASE 21, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, [HISTIDINEMIA], MYOTONIC DYSTROPHY 1, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, SILVER-RUSSELL SYNDROME, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, HOLOPROSENCEPHALY-7, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, 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, ?MICROPHTHALMIA, SYNDROMIC 13, ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE, HYPOPHOSPHATASIA, INFANTILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, AMYOTROPHIC LATERAL SCLEROSIS 11, NEU-LAXOVA SYNDROME 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, 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, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, HEMOCHROMATOSIS, TYPE 2A, ?POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL, MITOCHONDRIAL MYOPATHY WITH DIABETES, {AUTISM, SUSCEPTIBILITY TO, 18}, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKOENCEPHALOPATHY WITH ATAXIA, C SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ?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, EPISODIC PAIN SYNDROME, FAMILIAL, 2, WRINKLY SKIN SYNDROME, COFFIN-SIRIS SYNDROME 3, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, 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, VAN DEN ENDE-GUPTA SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ?FEBRILE SEIZURES, FAMILIAL, 4, PAROXYSMAL NONKINESIGENIC DYSKINESIA, MENTAL RETARDATION, X-LINKED 98, ?OSTEOGENESIS IMPERFECTA, TYPE XII, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, EVEN-PLUS SYNDROME, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, 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, PARAGANGLIOMAS 4, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, ALAGILLE SYNDROME, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, 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, DYSTONIA 25, ALAZAMI SYNDROME, ANDERSEN SYNDROME, IMMUNODEFICIENCY 23, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1, HYPOCHONDROPLASIA, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, SPINOCEREBELLAR ATAXIA 17, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, EXOSTOSES, MULTIPLE, TYPE 2, ?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, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, SESAME SYNDROME, HYALINE FIBROMATOSIS SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, GITELMAN SYNDROME, ULNAR-MAMMARY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 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, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, CHONDRODYSPLASIA, GREBE TYPE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, 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, HEMOCHROMATOSIS, TYPE 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, BARDET-BIEDL SYNDROME 10, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, ?ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3, CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT, KAUFMAN OCULOCEREBROFACIAL SYNDROME, MENTAL RETARDATION, X-LINKED 93, MICROPHTHALMIA, SYNDROMIC 14, ?MENTAL RETARDATION, X-LINKED 91, 3MC SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), OPSISMODYSPLASIA, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, EPILEPSY, PROGRESSIVE MYOCLONIC 7, MEVALONIC ACIDURIA, MOYAMOYA 6 WITH ACHALASIA, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION, NIEMANN-PICK DISEASE TYPE C1, HOLOPROSENCEPHALY-3, ?HYDROLETHALUS SYNDROME 2, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, TRANSCOBALAMIN II DEFICIENCY, PARKINSONISM-DYSTONIA, INFANTILE, FRONTOMETAPHYSEAL DYSPLASIA, ?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, ?SECKEL SYNDROME 4, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 2}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1}, CRANIOECTODERMAL DYSPLASIA 1, 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, BURN-MCKEOWN SYNDROME, COHEN SYNDROME, OCULOECTODERMAL SYNDROME, 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, IMMUNODEFICIENCY 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HYPOMAGNESEMIA 1, INTESTINAL, BORJESON-FORSSMAN-LEHMANN SYNDROME, 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, MYOPATHY, DISTAL, 4, 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, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, [C3HEX, ABILITY TO SMELL], PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50, ACROCAPITOFEMORAL DYSPLASIA, 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, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY, RITSCHER-SCHINZEL SYNDROME 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SPINOCEREBELLAR ATAXIA 5, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, SPINOCEREBELLAR ATAXIA 7, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, 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, BARAITSER-WINTER SYNDROME 2, EPISODIC PAIN SYNDROME, FAMILIAL, 3, DYSTONIA 6, TORSION, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, AGAMMAGLOBULINEMIA, X-LINKED 1, JOUBERT SYNDROME 17, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, EPISODIC ATAXIA, TYPE 2, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, STROMME SYNDROME, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, EPILEPSY, FAMILIAL TEMPORAL LOBE, 1, TRIGONOCEPHALY 1, MENTAL RETARDATION, X-LINKED 29 AND OTHERS, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, SMITH-LEMLI-OPITZ SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET, 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, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, MAST 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, 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, KEUTEL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, COUSIN SYNDROME, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, HYPOMAGNESEMIA 2, RENAL, OSTEOGLOPHONIC DYSPLASIA, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, GM1-GANGLIOSIDOSIS, TYPE I, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, ?BARDET-BIEDL SYNDROME 18, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CHANARIN-DORFMAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, 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, BARDET-BIEDL SYNDROME 4, OPITZ GBBB SYNDROME, TYPE I, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, SCHAAF-YANG SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 8, THYROID DYSHORMONOGENESIS 1, PARIETAL FORAMINA 1, RITSCHER-SCHINZEL SYNDROME 1, WILSON-TURNER SYNDROME, THYROID DYSHORMONOGENESIS 4, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, ?SPASTIC PARAPLEGIA 63, ALEXANDER DISEASE, HEMOCHROMATOSIS, TYPE 4, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), 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, DIAMOND-BLACKFAN ANEMIA 7, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO}, ?MENTAL RETARDATION, X-LINKED 101, TEMTAMY SYNDROME, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, NONAKA MYOPATHY, PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE, EARLY ONSET, ARTHROGRYPOSIS, DISTAL, TYPE 5, 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, MOLYBDENUM COFACTOR DEFICIENCY A, FRONTOTEMPORAL DEMENTIA, BOUCHER-NEUHAUSER SYNDROME, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14}, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, DYSTONIA 9, NATIVE AMERICAN MYOPATHY, ADAMS-OLIVER SYNDROME 5, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, HELSMOORTEL-VAN DER AA SYNDROME, MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE, COENZYME Q10 DEFICIENCY, PRIMARY, 4, RAPADILINO SYNDROME, 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, 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, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE, HARTNUP DISORDER, EPILEPSY, PYRIDOXINE-DEPENDENT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, FRONTONASAL DYSPLASIA 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ?DYSTONIA 23, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], ARTS SYNDROME, GM2-GANGLIOSIDOSIS, AB VARIANT, HOLOPROSENCEPHALY-9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, 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}, ?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, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9, WAARDENBURG SYNDROME, TYPE 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, BARTTER SYNDROME, TYPE 4B, DIGENIC, BARDET-BIEDL SYNDROME 17, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, TRIMETHYLAMINURIA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARDIOMYOPATHY, DILATED, 1A, JOUBERT SYNDROME 13, TYROSINEMIA, TYPE I, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, 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, MUSCULAR DYSTROPHY, RIGID SPINE, 1, COENZYME Q10 DEFICIENCY, PRIMARY, 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, DYSTONIA-PARKINSONISM, X-LINKED, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, ROUSSY-LEVY SYNDROME, SILVER SPASTIC PARAPLEGIA SYNDROME, 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}, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ?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), 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, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MECKEL SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, NEUROPATHY, INFLAMMATORY DEMYELINATING, VACTERL ASSOCIATION, X-LINKED, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, ARTERIAL TORTUOSITY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE 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, MEIER-GORLIN SYNDROME 5, GRISCELLI SYNDROME, TYPE 3, 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, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, THYROID DYSHORMONOGENESIS 5, 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, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, KENNY-CAFFEY SYNDROME, TYPE 1, 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, SADDAN, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, 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, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION, DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD, OPTIC ATROPHY PLUS SYNDROME, CLEFT PALATE, ISOLATED, EXOSTOSES, MULTIPLE, TYPE 1, PICK DISEASE, DIGEORGE SYNDROME, 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, HYPERTENSION AND BRACHYDACTYLY SYNDROME, DEMENTIA, FAMILIAL BRITISH, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, MECKEL SYNDROME 3, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, DESBUQUOIS DYSPLASIA 2, ?CONGENITAL HEART DEFECTS, HAMARTOMAS OF TONGUE, AND POLYSYNDACTYLY, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, CHOPS SYNDROME, ?SPONDYLOCOSTAL DYSOSTOSIS 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, 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, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, ?HYDROXYKYNURENINURIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, TUMOR PREDISPOSITION SYNDROME, JOUBERT SYNDROME 20, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, NEUROCUTANEOUS MELANOSIS, SOMATIC, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, 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, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, {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, PARKINSON DISEASE 19, JUVENILE-ONSET, AGAMMAGLOBULINEMIA 2, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), PORETTI-BOLTSHAUSER SYNDROME, DEJERINE-SOTTAS DISEASE, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, PARASTREMMATIC DWARFISM, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, GIANT AXONAL NEUROPATHY-1, 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}, 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, LEUKODYSTROPHY, HYPOMYELINATING, 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5, SCLEROSTEOSIS 2, STIFF SKIN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, 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, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, 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, NIEMANN-PICK DISEASE, TYPE B, INTRINSIC FACTOR DEFICIENCY, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, 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}, PELIZAEUS-MERZBACHER DISEASE, 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, FACTOR VII DEFICIENCY, {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, SMED STRUDWICK TYPE, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, MYOCLONUS, FAMILIAL CORTICAL, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, ?JOUBERT SYNDROME 22, GELEOPHYSIC DYSPLASIA 1, MICROCEPHALY, AMISH TYPE, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 10, MASA SYNDROME, CRASH SYNDROME, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, GAUCHER DISEASE, PERINATAL LETHAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HUNTINGTON DISEASE-LIKE 2, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, NEMALINE MYOPATHY 9, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EPISODIC ATAXIA, TYPE 5, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 6, MANNOSIDOSIS, BETA, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, MUCOLIPIDOSIS II ALPHA/BETA, CEREBROCOSTOMANDIBULAR SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IF, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CODAS SYNDROME, USHER SYNDROME, TYPE IJ, SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE, DESANTO-SHINAWI SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, THYROID HORMONE RESISTANCE, PSEUDOHYPOPARATHYROIDISM IA, 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, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, 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, MUCOLIPIDOSIS III GAMMA, 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, 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, LEUKODYSTROPHY, HYPOMYELINATING, 13, WAARDENBURG SYNDROME, TYPE 3, FACTOR X DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 11, SHASHI TYPE, SOTOS SYNDROME 2, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, TENORIO SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ?OTOFACIOCERVICAL SYNDROME 2, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, TREMOR, HEREDITARY ESSENTIAL, 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, CHOREA, HEREDITARY BENIGN, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, NIEMANN-PICK DISEASE, TYPE C2, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, TROYER SYNDROME, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLYCOGEN STORAGE DISEASE 0, LIVER, SECKEL SYNDROME 5, MENTAL RETARDATION, X-LINKED 21/34, XERODERMA PIGMENTOSUM, TYPE 1, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, THYROID DYSHORMONOGENESIS 3, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, PERLMAN SYNDROME, OPTIC ATROPHY 7, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, 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, PARKINSON DISEASE 20, EARLY-ONSET, ENCEPHALOPATHY, NEONATAL SEVERE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27, CRANIOSYNOSTOSIS, TYPE 1, MENTAL RETARDATION, X-LINKED 58, DEAFNESS, AUTOSOMAL RECESSIVE 84A, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CRANIOSYNOSTOSIS 6, MECKEL SYNDROME 4, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, BARDET-BIEDL SYNDROME 9, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MOLYBDENUM COFACTOR DEFICIENCY B, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY



It has 1986 associated genes.

Show genes

Associated genes: CA2, TSC2, MSH6, CRIPT, VARS2, GPT2, FTL, GUSB, ADAMTS18, LRRK2, ALG3, TRIP4, CHD8, EGR2, PTRH2, SLC6A8, GNPTAB, OCRL, DNAI2, PIGW, CYP7B1, MYO18B, WWOX, GCSH, ARHGEF10, NONO, GCM2, ADH1B, APOA1, IFNAR2, IDS, GSN, PAXIP1, DAG1, SNCB, ANTXR2, FGF17, ALAD, SCP2, NR1I3, SPARC, AP1S2, VPS33B, ITPR1, DDHD1, GSS, MLPH, CP, RMRP, ALDOA, PRKRA, PAX1, PRPS1, NDUFS3, IGLL1, RAB3GAP2, NOS1AP, PDYN, CEP290, NDUFAF2, FOXC1, CTDP1, PNPLA6, NDUFS7, GLDC, SLC40A1, HES7, CCDC28B, CENPE, PI4KA, SLC19A2, KCNA2, TINF2, TANGO2, ACAT2, A2M, SLC6A17, EFNB1, FAR1, XRCC4, PTPN22, ADK, IFT122, TAT, CUL4B, TNFSF11, HINT1, HNRNPK, NPHP1, PCDH15, PDE4D, FMN2, HPD, COMT, TSR2, FOXRED1, TFAP2B, SCARF2, NLRP5, ERCC6, GRIN2B, AMT, FANCL, ATXN3, ATP7A, POLR3B, DPM2, IQSEC2, TSC1, SOS2, NEFH, NDUFS2, CCBE1, UGT1A1, PEX14, DNM2, IRX5, TRAIP, NAA10, SBF2, MID2, RAI1, DGUOK, KIF2A, ST3GAL3, THAP1, VPS37A, IDUA, KIAA0319, TRPM6, FEZF1, DNAH8, NBN, PCNT, PRF1, CACNA1D, RRM2B, IGF1, PET100, GATM, SLC6A4, MAOA, CYB5R3, SLC33A1, VAPB, DOK7, ALDOB, PIGM, MYCN, ADAMTSL2, FGFR1, POC1A, EXOSC8, PTH, BBS2, KAT6B, GDNF, STAC3, ETFDH, LMAN2L, MCPH1, GPHN, KAT6A, AASS, FBXO31, BBS12, DLAT, ALPL, SLC2A2, SLC30A10, UBR1, SC5D, NIN, ANKH, SMC1A, DHTKD1, ATXN1, KARS, CISD2, SOX18, NIPA1, FREM2, GCLC, ATP13A2, ARHGAP11A, NFKBIL1, MT-ND3, UQCC2, DYRK1A, AIMP1, XPR1, ZC4H2, ASCL1, SDHA, NTRK1, HYLS1, MFSD2A, DRD3, SPTLC1, TUBA4A, CACNA1C, RFX5, COL6A3, ETFA, CCDC174, MT-TQ, PEX10, CHRNA2, COG4, DUOXA2, CHRNB1, TUFM, PMPCA, SDHAF2, ADGRE2, SOD1, DDX59, F2, LAMA1, CEP120, MED13L, STT3B, ADSL, DNAAF3, IKBKG, HEXB, NRXN1, NDUFA1, VPS53, MTHFR, BSND, ERCC8, VPS13B, ECE1, FMR1, NDRG1, PDP1, PNPLA2, NOP56, PIK3CA, UGT1A4, BMPER, KCNQ2, KIAA1033, MYH2, RARB, ACTA1, GRIP1, FARS2, SMARCA4, HTR1A, CBL, NDUFAF6, COQ4, FAM134B, ARMC4, IGF2, CLUAP1, CCND1, SYT14, ADCK3, ALDH6A1, HEXA, KDM5C, NLGN4X, CRLF1, ACAD9, SOX5, CACNB2, TALDO1, GLIS3, DPYD, ST3GAL5, TSHB, ABCB7, SCYL1, ALG6, SPEG, COX14, PANK2, ACVR1, TBX1, CDON, PGAP2, GDI1, DDX3X, SGCE, TNPO3, KCNMA1, KIAA0586, SLC22A5, PAX2, NAT8L, SLC9A6, KATNB1, CCL2, CNNM2, KRT8, FHL1, HCN1, FBN1, PEX19, MCOLN1, PPP2R5D, IHH, ELAC2, CA8, STXBP1, FGFR3, POLG2, STAT2, SOX10, GABRG2, FAH, NRAS, THOC2, PDSS2, PRICKLE2, ADAT3, DPM1, B9D1, PRKCSH, AP3B1, TGFB1, ERCC4, TCF4, PEPD, KCNE2, PGAP3, ABHD12, PDE10A, WDR19, FASTKD2, DARS, COL18A1, VAMP1, COQ6, MTR, CEP19, PSPH, SLC25A12, ATXN7, PRDM8, NDUFS8, HLCS, CD96, ICK, ACOX1, ZBTB24, SRD5A3, NDUFA11, ERCC1, MLH1, PHYH, GAN, CWF19L1, DDR2, RYR2, BMP4, DACT1, SUFU, ALG2, SCN8A, AARS, COL13A1, RSPH1, TTPA, BBS5, OPA3, NDUFB9, CNTNAP1, SETD2, THRB, TGDS, IL1RAPL1, DVL3, CHD7, SETD5, TP53, DNAJC5, TRAPPC11, GLUL, DNAL1, LYRM7, LHX3, BCKDHA, RSPH4A, MEGF10, IFNG, PRX, RELN, TGFBR1, EP300, ATP6V0A2, GCDH, MAX, GDAP1, POMT2, NOTCH3, BBS9, NFIX, SSR4, TRAF3IP1, PCK1, CEP83, TCN2, TNFRSF13B, TM4SF20, WNT7A, TTC21B, SFXN4, MRPS16, MC2R, CLN6, VPS35, LIG3, CIB2, SLC25A26, TAF2, ZNF711, SLC25A4, RNASEH2B, PSAT1, UBQLN2, SYP, SLC12A5, GAA, GLE1, CRBN, NGF, HCCS, ASL, CEP41, PLEKHG2, SPG11, WDR62, BRF1, IRF3, STX1B, C19orf12, INSR, KIAA0196, SCN9A, ARID1A, SERPINH1, RNASET2, MSH2, C10orf2, GLA, PMS2, STIL, TACO1, PLA2G6, FGF20, EXOSC3, WDR45, GABRA2, DNAJC3, NHP2, CHKB, MTRR, SHH, HBB, SLC5A5, TCTN3, MPDZ, BCKDHB, ACADS, MID1, NALCN, CIITA, SPG21, RBBP8, KIF11, TRMT10A, UBA1, NSDHL, KCNH2, KDM6A, APOPT1, RAB7A, JPH1, TRIM32, PNPO, ASPM, TYROBP, PEX2, SLC4A4, LIPT1, SPECC1L, MBD5, EVC, VLDLR, F7, IL1RN, SIK1, KCTD17, KIF21A, THRA, MTOR, ASAH1, CST3, LEP, OPHN1, MEGF8, AIFM1, DSP, SMARCE1, JAK2, EFTUD2, TNNT1, AAAS, SGSH, MKKS, HYDIN, TUBGCP4, ATP6V1B2, PSAP, AGT, C12orf57, DEAF1, GAMT, ARG1, KCNC1, MT-CO1, MGME1, HSPB3, CTNNB1, TCF12, HMBS, SMAD4, PIGY, YARS, HDAC6, SLC6A5, KBTBD13, CLCN2, PPP2R1A, TUBB, TCTN1, ARHGEF6, BBS7, RFXAP, INPPL1, AIP, SETD1A, FAM177A1, ALX3, UBE3A, CLPB, ARID1B, ZNF423, GLI3, RBMX, CSNK1D, MT-TH, ARL6, LAMP2, CD59, SPINK5, TAC3, PER3, ZFPM2, GIF, MASP1, EIF2B5, PIGL, LAMA2, AP4M1, MAPRE2, RARS, PLCB1, MT-CO2, GPSM2, PTPRQ, COL6A1, CAMTA1, TPK1, FTSJ1, FKTN, MMADHC, DMXL2, GPX4, RAB40AL, BDNF, RNF113A, CHAT, SOX11, JAM3, HLA-DQB1, NR3C1, IFT27, SDHB, HSPB8, SIGMAR1, ARMC5, ARHGDIA, APOB, TECPR2, CPT2, SCRIB, MFN2, KIF1C, TTR, MOCS2, CHCHD10, B3GLCT, AP4B1, TMEM237, PTDSS1, ABCD1, MCCC2, TMEM231, SMOC1, KCNA1, AR, NDUFB11, PGAP1, CDT1, COG6, DNAI1, SPAST, AARS2, RPIA, SF3B4, SERPING1, SPR, TGFB2, SLC26A2, HOXB1, MAP2K2, APOL4, TFAP2A, TMEM240, XPA, MPI, PDE8B, ZIC2, SLC19A3, CTSC, EDNRA, ECM1, MEF2C, C9orf72, POLG, MSX2, KIF5C, NLRP3, SERPINI1, JUP, SOX9, PADI4, CACNA1A, EFHC1, L2HGDH, WDPCP, FA2H, FANCA, B4GALT7, MICU1, GCK, RNF170, STIM1, KCNB1, DNM1, MT-ATP6, TTC19, BHLHE41, CBS, GHR, GMPPB, TAZ, OR2J3, UBE3B, SLC52A2, TPP1, AKAP9, DRD2, PLP1, VDR, FIBP, PARK2, COQ9, CELSR1, EMC1, ARL6IP1, VANGL2, PRKCG, NT5C2, NAGS, AKAP10, GUCY1A3, CENPJ, IVD, CLCF1, PEX1, C21orf59, MTFMT, BLMH, COL5A2, PNKD, TYMP, GNAL, KMT2D, VCP, ZFYVE26, SLC52A3, KCNJ8, ERMARD, BLM, LRP5, PUS1, NDUFS6, POLR1C, AGA, SLC6A1, PEX16, STRA6, MTMR14, ALDH18A1, HSPG2, ESR1, ISCA2, LMNA, CHRNA4, SORL1, MYH14, IGBP1, LARGE1, ATRX, CYP27A1, CTSA, RSPH3, PARK7, MAG, XPNPEP3, SEPT9, KDM1A, MAGEL2, RPGRIP1L, SMN2, MANBA, SLC12A3, ALG1, BCOR, SEPSECS, PPP1R15B, KCND3, NPC1, ACSL4, SPAG1, HNRNPA1, MTO1, POMGNT2, SLITRK1, PRKAG2, CEP152, B3GALT6, FANCD2, VRK1, MOG, GBE1, UROC1, TWIST2, QDPR, GPC3, NDUFAF4, MRPS22, ANOS1, KCNJ18, NOTCH2, PARN, CAD, NPC2, MT-TK, GALT, GFPT1, DCX, PSMB8, HGSNAT, APTX, GNAQ, POGZ, LRSAM1, POLR1D, PRICKLE1, PNPLA8, ALDH5A1, FGD4, CREBBP, CLDN16, RPS6KA3, TFG, TMLHE, INS, MOCS1, FAM20C, ATL1, SETBP1, KIF14, COX6A1, SLC25A19, LMX1B, TSFM, YAP1, CNTN1, SNTA1, VHL, CCT5, SNRPB, SMARCAL1, SEMA3A, ADAMTS2, SMS, METTL23, EDC3, DCTN1, TERT, TRPM7, H19, PTEN, F13A1, PIK3R5, EHMT1, CPA6, PRDM12, CCNO, FAT4, PHKG2, HPCA, RTN4IP1, JAK3, DNASE1, STAMBP, RCBTB1, TMEM127, SOS1, BBS1, ATM, MED23, GBA, SUCLG1, ACD, STRADA, TARS2, XK, TMEM165, CRB2, OCLN, VPS45, GRIK2, C8B, TMEM199, KIF1BP, MFSD8, CASK, CHI3L1, FUCA1, DISC1, DRD4, ZFYVE27, ACP5, SLC1A3, HAX1, ACAT1, TAS2R16, ARHGEF9, CDKN2A, ARFGEF2, TENM4, COX20, NDUFV2, SIX3, AFG3L2, COL4A2, CEP104, AUH, POU1F1, ABHD5, MATR3, FBXO7, SMARCA2, EXT1, TAF1, NLRP12, ZNF592, TUBA1A, NKX2-5, GAS1, LMNB1, SLC16A1, TPM3, DNAJB2, GARS, NHLRC1, PTCH2, HELLS, CANT1, SPG20, COL11A2, KRT18, GNAI2, MPL, PYCR1, ZIC3, COX4I2, TUBG1, SLC4A1, SLC7A7, WAC, PROKR2, GLUD1, PAX8, QARS, SHOC2, MYH3, WDR81, COL4A1, INF2, SGCA, KCNQ1OT1, MECP2, PDCD1, ATPAF2, DNAJC6, ANKLE2, TG, BBS10, CLPP, CCND2, EXT2, RMND1, BRCA1, IGF1R, PIEZO1, TMEM126A, AMPD2, TBC1D7, MT-TS1, GATA6, LITAF, ARSB, ZDHHC15, TBX15, ACVRL1, PNPT1, PAH, HESX1, GUCY2D, NDE1, POLR3A, TUBGCP6, PMP22, PDHA1, ETFB, ANK2, PRKACA, TRPS1, TUSC3, CPS1, DRD5, MPV17, FANCC, MT-ND5, DPAGT1, PNP, ADGRV1, ACO2, PIGA, SAR1B, MYH11, PHGDH, RNF168, HFE2, PORCN, CORO1A, CALM1, ADAMTS13, APP, PLOD3, VAX1, CC2D2A, LBR, LAMB1, KRIT1, KRT74, HDC, SLC6A3, CDC6, CLN3, IL17RD, B2M, GALK1, HSPB1, RANBP2, ESCO2, MCCC1, FH, PHF8, AGK, TTC8, PRKCH, POR, TGFBR2, FUZ, P3H1, TGIF1, SLC6A19, UPB1, MYOT, NF2, SCN4A, ALMS1, SLC39A8, SYNE1, MT-ND6, ALG11, KIAA0556, ORC6, IL10, KCNJ1, RNASEH2A, NKX2-1, HSPD1, MT-CYB, ABCD4, ADGRG1, GAD1, TNNT2, SH2D1A, FBXL4, HTR2A, ANKRD11, FXYD2, AHI1, SYT2, RBM28, LIAS, SCO2, NDUFA12, NLGN3, CHST14, CEP63, PGK1, PSEN2, CTSD, COLQ, NUP62, PNKP, DBH, FLVCR1, MMACHC, ICR1, HDAC8, SH3PXD2B, COX15, SCN2A, PEX13, PEX5, ECHS1, MUSK, XPC, ZMYND11, CYP2U1, AHDC1, ADAR, SDHAF1, CSF1R, SLC2A1, SLC9A1, TGM6, SLC46A1, OSMR, ERCC6L2, PIK3R2, PUF60, RFXANK, PDHX, DNAAF1, SPRY4, DYX1C1, ENG, PDSS1, CPT1C, HMGB3, PCCA, BRWD3, KIF7, MT-TF, FKRP, PAK3, ANK3, CCDC88C, CTCF, CUBN, POMK, DHCR24, COX7B, RDH11, EXOC8, NOP10, SKI, B3GALNT2, RPS26, TREX1, LRP4, TH, ALOX5AP, POMT1, F5, SEMA3E, PSEN1, JPH3, PCCB, ZIC1, ASCC1, WNK1, ACY1, NDUFB3, KMT2A, HADH, SLC25A1, SPTAN1, PODXL, MT-CO3, KCNE3, CACNB4, USP8, CLCN7, CLP1, ATN1, DCPS, SLC1A4, GABRA1, SERPINA1, NDUFAF1, PPT1, TTC37, SMAD9, SACS, AMACR, SCARB2, SNIP1, CFL2, GTPBP3, KCNE1, B9D2, KMT2C, EARS2, ADAMTS10, RBM10, MYT1L, EDN3, TCIRG1, ANO10, AP4E1, RAB18, STX11, BOLA3, BRAF, SNAP25, PIGV, GNPTG, UBE2A, RSPRY1, TMEM70, GNS, RIT1, SNRPN, CYP27B1, KLC2, EEF2, NFKB2, ALDH3A2, KCNJ5, B4GALNT1, HRAS, TNFRSF11B, SCN4B, SOX2, SLC5A7, NAGLU, PEX3, ITPA, SLC16A2, CLIC2, TCTN2, LMNB2, SLC20A2, SEC24D, KCNH1, MAF, KANSL1, LYZ, DYNC1H1, IFT140, OTC, SHOXY, SH2B3, COL6A2, CHRNE, C8A, SLC12A6, ACTG1, ASXL1, KCNJ10, MYBPC3, PCLO, PEX7, MUT, TFR2, RNF216, SERAC1, NIPBL, ZSWIM6, COLEC11, HCFC1, CTLA4, DHFR, ASPA, MGP, REEP2, CCDC151, FCGR2A, HCN4, ATIC, C3AR1, ADRA2B, SASS6, TPM1, SQSTM1, RNASEH2C, PEX6, CAV1, CTH, PMM2, MGAT2, CDK5, WDR35, ZEB2, NEB, CCDC115, FGF3, PDE6D, COL1A1, JAG1, SBDS, PRPH, GRID2, COL2A1, BAP1, GLI2, NUBPL, AMN, EIF2B2, RIN2, STT3A, LZTR1, SLC39A4, KRT85, MAPT, KIF5A, AP4S1, ATXN10, MOGS, NNT, MSMO1, HADHA, COMP, PLOD1, ABCA7, TUBB4A, MMP13, DSE, ERCC5, SAMHD1, UQCRQ, NDUFA9, CTC1, CYP2D6, DKC1, NDUFV1, ALX4, ABCC8, GNB4, DDHD2, HPRT1, FBXO38, COL5A1, SDHD, FRMD4A, FAM111A, HLA-DRB1, SYN1, GAL, TXN2, BICD2, ACP2, BCS1L, RAPSN, LTBP2, PLK4, PRKAR1A, PHC1, SETX, FUS, COQ2, MT-ND1, DNA2, RTN4R, LAMC3, EOGT, ACADSB, TBCK, MTTP, AMER1, CHRND, SLC13A5, GRIN2A, FGF14, SMARCB1, DOCK8, FOXG1, SYNJ1, FAM126A, TRAPPC9, FADD, UQCRB, HERC2, NDUFA10, SLC1A1, THOC6, DRC1, CACNA1S, UCHL1, IYD, HNMT, SMC3, TSEN54, NDUFAF5, HTRA1, DISC2, ISPD, TSPAN7, HCRT, ATP2B3, DNAJC19, CNBP, CHRNG, RAG1, PIGT, MYD88, CKAP2L, EBP, RAB27A, RNASEH1, MYO5A, OTX2, ALB, VANGL1, SLC35A2, COX10, SLC25A22, PLG, MAN2B1, CCDC103, IBA57, MARS2, COQ7, HAL, ERCC2, PDGFRB, MTMR2, XYLT2, EIF2B4, GYS2, HLA-DQA1, FGD1, PTCH1, ACE, KRAS, LGI1, PAX6, RIPPLY2, IFT172, CPOX, EPHX1, PIGG, PRRX1, TARDBP, DOCK6, MT-ND2, CCDC114, ITM2B, ASS1, MT-TD, RAB3GAP1, PDE3A, HTT, AVPR2, CCDC22, RAD51, AP1S1, NDUFA2, SH3TC2, ZBTB16, TRPA1, EYA1, NDST1, KLHL41, CYP24A1, ZMYND10, SPATA5, ARHGAP31, TUBA8, LARS, NARS2, KYNU, PURA, PRODH, CSPP1, TGFB3, DAOA, CASR, DMD, CHRNA1, PYCR2, LAMA4, TUBB2A, PRKDC, NDUFS1, DTNBP1, CFI, MED12, SEC63, PGM3, TOR1A, MCM4, ATP7B, ATP8A2, LDB3, ACADM, SHANK3, DDOST, LMBRD1, GJB1, SUMF1, MT-ND4, DNAJC13, BIN1, PCDH19, HSD17B4, DHCR7, PRNP, ENTPD1, SCN5A, NSD1, FXN, AKT3, EIF2B3, DIAPH1, FGFR2, UQCC3, CPT1A, RPL11, CA5A, L1CAM, DIP2B, ELOVL5, RET, SPTBN2, KCNJ2, HACE1, ACADVL, RNF125, CFHR1, ADCY6, RFT1, GOSR2, PLEKHG4, ARSA, APOE, SUOX, TMEM216, WDR73, NGLY1, GNAS, WNT5A, ANO3, DOCK7, EVC2, ETHE1, VMA21, SCN10A, GLYCTK, SLC17A5, PIEZO2, NOG, DST, KIF1B, ITGA3, TBC1D24, BEAN1, MLYCD, MLC1, POMGNT1, RTN2, ARSE, AP5Z1, SBF1, MKS1, ATXN8, TRMT5, DYNC2H1, IFIH1, ERBB3, NDUFAF3, CEP135, PHKA2, CHMP1A, IRF5, LONP1, P4HB, GATAD2B, CHAMP1, ALDH7A1, HS6ST1, BUB1B, ABAT, TSEN2, TAF6, BTD, CTSF, MRE11A, TUBB2B, PER2, SUCLA2, MAT1A, TECR, ROR2, FCGR2B, NOL3, T, PPP2R2B, TP63, DUSP6, DNMT3A, SLC12A1, GATA1, MAN1B1, TAPT1, FANCE, MT-TE, TMCO1, SLC25A15, TPM2, ASNS, IARS2, ALDH2, PQBP1, CASQ2, MYO7A, AKT1, TPI1, LRPPRC, GNAO1, LARP7, PINK1, EZH2, TWIST1, DNAH1, HSPA9, GNE, MMAA, KIAA2022, CC2D1A, MTM1, RBCK1, GJC2, POLA1, CHST3, HABP2, SPTLC2, TMEM5, VPS13A, SEPN1, UNC80, VPS13C, PIGN, DNAL4, PEX12, GMPPA, SPG7, DMPK, VPS11, IER3IP1, PTPN11, NDUFS4, DNAAF2, NEU1, B4GALT1, CLCNKB, GLRA1, SYNGAP1, BRAT1, CDK5RAP2, SARS2, FBP1, GTF2H5, EPM2A, MT-TS2, ATP1A3, HADHB, SURF1, MMAB, NR4A2, ACTB, GRN, CACNA1B, COL1A2, GBA2, GFAP, D2HGDH, PDK3, ITGA2B, PROP1, G6PC3, FGA, BAAT, ELP4, ZBTB20, CD244, NPR2, PROK2, TRNT1, DES, MPO, RUBCN, KCNT1, DLD, NHS, CHD2, IKBKAP, IL2RG, CUL7, GLRX5, FIG4, RPS28, SCN1B, SCN11A, ABCC6, CLCNKA, GABRD, MIR17HG, NME1, SP7, NOTCH1, ERCC3, ATXN8OS, CSTB, GPI, AFF4, GK, CARD9, SPRED1, C2CD3, ZNF81, HARS, RBPJ, ACTA2, VIPAS39, EPG5, UPF3B, APBB2, MC4R, DPH1, BMP1, FOLR1, MT-TL1, TREM2, DARS2, CTNS, PTH1R, PEX11B, HMGCL, NDN, OSTM1, TXNL4A, NPHP3, FOXP1, CASC5, FRAS1, TMEM138, LRP2, SNCA, HK1, ERBB4, CDKL5, KIF4A, NBAS, DLG3, TTI2, PTS, PAX3, ATP2A2, MRPL3, B3GAT3, KIF22, SOST, EIF2AK3, TBCE, SCO1, RECQL4, NOS3, C5orf42, DNMT1, GM2A, OFD1, PCNA, NEFL, OTOF, TMEM67, ARL13B, EPOR, ZBTB18, SLC25A20, SOBP, ROGDI, SATB2, DCAF17, DCHS1, PAFAH1B1, DCAF8, SALL1, RAD21, CDK6, CENPF, AP2S1, KCNJ6, RAB39B, FLRT3, DNAH5, GALC, TSPYL1, EIF4A3, NADK2, IGHMBP2, MTPAP, DPYS, SNX14, ITCH, ARX, LAMB2, FANCM, PLEKHG5, CRADD, OGDH, MBTPS2, ABCA1, COX8A, LZTFL1, TBK1, RAG2, NECAP1, AFF2, PLEC, SLC2A10, SMN1, PTF1A, TNF, SNAP29, SDHC, ATP1A2, GFM1, PRSS12, PROC, ORAI1, SNCAIP, SLC25A46, DNM1L, EEF1A2, NR2F1, FKBP14, DYM, WDR11, GSC, SLC25A13, SLC22A4, WAS, SLC35A3, PAM16, DSG2, GLB1, SMPD1, DEPDC5, HSD17B10, PDE11A, FOXP2, SDCCAG8, ZNF335, FLNA, TBC1D20, MAB21L2, GNA11, USP9X, CEP164, PPOX, TUBB3, PTCHD1, MNX1, ATP5A1, CHMP2B, SCN1A, DBT, PIGO, TTN, TSHR, RPS19, AQP2, TRPV4, CFH, GHSR, HIKESHI, SERPINC1, KCNQ1, KCNQ3, UBB, STUB1, EIF2B1, WNT3, BCL10, MED25, ERF, TBP, PDGFRA, NEK1, C12orf65, ATP6AP2, ABCC9, TRH, AUTS2, GRM1, MT-ND4L, F10, RARS2, ADNP, BSCL2, BAG3, ALDH4A1, MPLKIP, TRIM37, PRRT2, FLNB, ALG13, PDGFB, SRCAP, GDF5, CARS2, MPC1, BBIP1, DIS3L2, TTBK2, FMO3, ORC1, BCAP31, ITGB3, TBX3, CERS1, DAO, MCIDAS, HIBCH, GALNS, BTK, COX6B1, CLASP1, EFEMP2, NF1, MEFV, XYLT1, CECR1, WFS1, EMD, UMPS, CLN8, GRIA3, TIMM8A, HEPACAM, FBLN5, RBM8A, SYN2, GLUD2, LYST, GCH1, LINS1, RYR1, MORC2, AKT2, AGXT, MARS, EIF4G1, DDX11, NSUN2, CCM2, ELOVL4, WNT1, MPZ, SLC35C1, RTTN, NDP, KIF1A, REEP1, PCBD1, CCDC78, CLN5, ADCY5, NFU1, RNU4ATAC, FLNC, KCNJ11, CACNA1G, GJA1, CFHR3, FTCD, INPP5E, ALS2, MVK, KPTN, DDC, ATCAY, TRIM2, FBN2, PEX26, GALE, DCC, SHOX, TRPC3, UQCRC2, GYS1, PHOX2B, MED17, PLAU, COASY, SZT2, ATL3, CDKN1C, APOL2, DNMT3B, SIL1, RPE65, FKBP10, WDR34, NPPA, ADH1C, ERLIN2, RUNX2, COL4A3BP, GORAB, CNTN2, RAB23, ACACA, TRPM4, BBS4, ATR, ATXN2, PHF6, AHCY, KCTD7, CEP57, FLVCR2, PACS1, LIFR, GNPAT, RTEL1, OPA1, PC, DOLK, ITGA7, NAGA, MPDU1, KCNC3, CYC1, ARNT2, B4GAT1, PIK3R1, HFE, FTO



GO terms for Biological Process
GO terms for Molecular Function
GO terms for Cellular Component
KEGG pathways
REACTOME pathways