ABNORMALITY OF THE MUSCULATURE, HP:0003011

Associated diseases: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ACHONDROPLASIA, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, DYSAUTONOMIA, FAMILIAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 10, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, RUIJS-AALFS SYNDROME, CATEL-MANZKE SYNDROME, CARPENTER SYNDROME 2, ARTHROGRYPOSIS, DISTAL, TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, CK SYNDROME, MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, PRADER-WILLI SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE WITH AXONAL NEUROPATHY, HOLT-ORAM SYNDROME, NEUROFIBROMATOSIS, TYPE 1, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, SPINOCEREBELLAR ATAXIA 8, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, KAHRIZI SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, NESTOR-GUILLERMO PROGERIA SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, RHABDOMYOSARCOMA, EMBRYONAL, 2, ?MECKEL SYNDROME 12, MITOCHRONDRIAL MIOPATHY, LETHAL, INFANTILE; LIMM, MUCOPOLYSACCHARIDOSIS VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, XANTHINURIA, TYPE I, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, 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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MYOPATHY, CENTRONUCLEAR, 3, TUBEROUS SCLEROSIS-1, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 2, MALONYL-COA DECARBOXYLASE DEFICIENCY, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 36, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, NOONAN SYNDROME 7, 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, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27, NEMALINE MYOPATHY 5, AMISH TYPE, STORMORKEN SYNDROME, KABUKI SYNDROME 2, PROPIONICACIDEMIA, PIERSON SYNDROME, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, PERIODIC FEVER, FAMILIAL, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, CUTIS LAXA, AUTOSOMAL DOMINANT 3, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SOTOS SYNDROME 1, HYPEREKPLEXIA 2, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, ACETYL-COA CARBOXYLASE DEFICIENCY, AMYLOIDOSIS, FINNISH TYPE, HARP SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIL, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, PERRAULT SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, MUSCULAR DYSTROPHY, CONGENITAL, SPASTIC PARAPLEGIA 3A, AUTOSOMAL DOMINANT, SPINOCEREBELLAR ATAXIA 35, KOHLSCHUTTER-TONZ SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, CAMURATI-ENGELMANN DISEASE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, AMYOTROPHY, HEREDITARY NEURALGIC, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, DOOR SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, ?AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, KRABBE DISEASE, ATYPICAL, FIBROCHONDROGENESIS 1, LOEYS-DIETZ SYNDROME 5, ?N SYNDROME, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 3, BRANCHIOOCULOFACIAL SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, LESCH-NYHAN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIH, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, DYSTONIA-1, TORSION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, JOUBERT SYNDROME 6, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, FAZIO-LONDE DISEASE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, GRACILE SYNDROME, FG SYNDROME 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, 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, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, 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, METATROPIC DYSPLASIA, SC PHOCOMELIA SYNDROME, BETA-UREIDOPROPIONASE DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, FUCOSIDOSIS, ?MENTAL RETARDATION, AUTOSOMAL DOMINANT 22, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, HARTSFIELD SYNDROME, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, PHELAN-MCDERMID SYNDROME, SPONDYLOOCULAR SYNDROME, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, CENTRONUCLEAR MYOPATHY 5, YUNIS-VARON SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HAND-FOOT-UTERUS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, GERODERMA OSTEODYSPLASTICUM, DIAMOND-BLACKFAN ANEMIA 10, FACTOR VII DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, MICROPHTHALMIA WITH LIMB ANOMALIES, GRISCELLI SYNDROME, TYPE 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, ETHYLMALONIC ENCEPHALOPATHY, METHYLMALONIC ACIDURIA CBLB TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MYOTONIC DYSTROPHY 2, TANGIER DISEASE, JOUBERT SYNDROME 21, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ?GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT, 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, PARAMYOTONIA CONGENITA, OPITZ-KAVEGGIA SYNDROME, SENGERS SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MYHRE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, HYPERPROLINEMIA, TYPE I, MYOTONIA CONGENITA, RECESSIVE, CONGENITAL DISORDER OF DEGLYCOSYLATION, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 94, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BONE MARROW FAILURE SYNDROME 2, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, LEUKODYSTROPHY, HYPOMYELINATING, 3, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IO, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MULTIPLE SULFATASE DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, GALLOWAY-MOWAT SYNDROME, PRIMROSE SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), CYCLIC VOMITING SYNDROME; CVS, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MENTAL RETARDATION, X-LINKED 99, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 4}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, XIA-GIBBS SYNDROME, OCULODENTODIGITAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, JOUBERT SYNDROME 2, MUCOPOLYSACCHARIDOSIS II, CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME, DYSTONIA-12, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, HYPEREKPLEXIA HEREDITARY, BARTTER SYNDROME, TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, FUMARASE DEFICIENCY, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, WARBURG MICRO SYNDROME 4, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, ?MYOSCLEROSIS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, A, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, RENPENNING SYNDROME, SPINOCEREBELLAR ATAXIA 13, CARDIOMYOPATHY, DILATED, 1X, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GAUCHER DISEASE, TYPE II, ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MYOGLOBINURIA, RECURRENT, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, SUPRANUCLEAR PALSY, PROGRESSIVE, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, GLUTARICACIDURIA, TYPE I, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, DANON DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, DEMENTIA, FAMILIAL DANISH, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, NEMALINE MYOPATHY 6, AUTOSOMAL DOMINANT, NEUROFIBROMATOSIS, FAMILIAL SPINAL, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 2, CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, CRANIOFRONTONASAL DYSPLASIA, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, BORJESON-FORSSMAN-LEHMANN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16, CARPENTER SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, LISSENCEPHALY 6, WITH MICROCEPHALY, LYSYL HYDROXYLASE 3 DEFICIENCY, HOLOPROSENCEPHALY-2, INFANTILE NEUROAXONAL DYSTROPHY 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, CREATINE PHOSPHOKINASE, ELEVATED SERUM, NEURODEGENERATION WITH BRAIN IRON ACCULULATION 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ATAXIA, CEREBELLAR, CAYMAN TYPE, GLYCOGEN STORAGE DISEASE IA, ?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, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, HYPOKALEMIC PERIODIC PARALYSIS 1, 3-METHYLGLUTACONIC ACIDURIA, TYPE III, MUSCLE HYPERTROPHY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS, ?DYSTONIA 23, NAIL-PATELLA 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, PEROXISOME BIOGENESIS DISORDER 7B, WARBURG MICRO SYNDROME 1, LATERAL MENINGOCELE SYNDROME, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, ?MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, EHLERS-DANLOS SYNDROME, TYPE VI, AMYOTROPHIC LATERAL SCLEROSIS 9, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, OROFACIODIGITAL SYNDROME VI, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 2-METHYLBUTYRYLGLYCINURIA, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, TUMORAL CALCINOSIS, FAMILIAL, NORMOPHOSPHATEMIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY, LEOPARD SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, 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, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, BETHLEM MYOPATHY 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10, NIJMEGEN BREAKAGE SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 8, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, PITT-HOPKINS SYNDROME, SPINAL MUSCULAR ATROPHY-2, ?OTOFACIOCERVICAL SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, CEREBROTENDINOUS XANTHOMATOSIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER, 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, CARDIOFACIOCUTANEOUS SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MULIBREY NANISM, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, DENYS-DRASH SYNDROME, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, MYOPATHY, MYOFIBRILLAR, 1, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 2, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BEHR SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 2, MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS, MUCOLIPIDOSIS IV, WHITE-SUTTON SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MEDNIK SYNDROME, COACH SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, PEROXISOME BIOGENESIS DISORDER 3B, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, PRIMARY LATERAL SCLEROSIS, JUVENILE, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, D-2-HYDROXYGLUTARIC ACIDURIA 2, 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, GLYCOGEN STORAGE DISEASE VII, NEU-LAXOVA SYNDROME 1, KRABBE DISEASE, MENTAL RETARDATION, X-LINKED 19, ?GLYCOGEN STORAGE DISEASE XV, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, ESCOBAR SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, RETT SYNDROME, CONGENITAL VARIANT, ?PARKINSONISM WITH SPASTICITY, X-LINKED, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ?CANDIDIASIS, FAMILIAL, 8, GLYCOGEN STORAGE DISEASE 0, MUSCLE, CAPOS SYNDROME, GRISCELLI SYNDROME, TYPE 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GAUCHER DISEASE, TYPE III, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, WARBURG MICRO SYNDROME 3, BASAL CELL NEVUS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ?ACAT2 DEFICIENCY, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, GLASS SYNDROME, MYOPATHY, CENTRONUCLEAR, 4, BROWN-VIALETTO-VAN LAERE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 10, WAARDENBURG SYNDROME, TYPE 4A, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ?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), WARBURG MICRO SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 15, WITHOUT TUBULAR AGGREGATES, CONGENITAL DIAPHRAGMATIC HERNIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, EPISODIC ATAXIA/MYOKYMIA SYNDROME, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), GLUTAMINE DEFICIENCY, CONGENITAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MIYOSHI MUSCULAR DYSTROPHY 3, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, OPTIC ATROPHY 1, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, TERMINAL OSSEOUS DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, TEMPLE-BARAITSER SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, RHABDOMYOSARCOMA, SOMATIC, PONTOCEREBELLAR HYPOPLASIA TYPE 4, CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, AL-RAQAD SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 8, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MYOTONIC DYSTROPHY 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 26, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, 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, NASU-HAKOLA DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, MCARDLE DISEASE, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 6B, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, D-2-HYDROXYGLUTARIC ACIDURIA, PORENCEPHALY 2, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?SNEDDON SYNDROME, SPINOCEREBELLAR ATAXIA 12, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, ?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, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, IMMUNODEFICIENCY 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, ZIMMERMANN-LABAND SYNDROME 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY, SPINOCEREBELLAR ATAXIA 28, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, GLYCOGEN STORAGE DISEASE XII, PETERS-PLUS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, LEBER OPTIC ATROPHY AND DYSTONIA, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, ?SPASTIC PARAPLEGIA 63, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MUSCLE GLYCOGENOSIS, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, BRUCK SYNDROME 2, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, PITT-HOPKINS-LIKE SYNDROME 2, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, SYNDACTYLY, TYPE V, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, THYROID DYSHORMONOGENESIS 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WEAVER SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, WIEACKER-WOLFF SYNDROME, LOWE SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1, GLYCINE ENCEPHALOPATHY, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, SED CONGENITA, HYPEREKPLEXIA 3, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, LATHOSTEROLOSIS, METACHROMATIC LEUKODYSTROPHY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, ?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, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ATAXIA-OCULOMOTOR APRAXIA 3, KABUKI SYNDROME 1, LADD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MANNOSIDOSIS, ALPHA-, TYPES I AND II, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, 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, PORENCEPHALY 1, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MANDIBULOACRAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, WARSAW BREAKAGE SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINAL MUSCULAR ATROPHY-4, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JOUBERT SYNDROME 15, FRONTONASAL DYSPLASIA 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL, 3-M SYNDROME 2, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, JOUBERT SYNDROME 24, PELGER-HUET ANOMALY, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, KLEEFSTRA SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIG, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, MENTAL RETARDATION, X-LINKED SYNDROMIC, RAYMOND TYPE, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, MYOPATHY, MYOFIBRILLAR, 4, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ADAMS-OLIVER SYNDROME 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, MYASTHENIC SYNDROME, CONGENITAL, 16, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HYPERLYSINEMIA, VAN MALDERGEM SYNDROME 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4, SMITH-MAGENIS SYNDROME, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, SACCHAROPINURIA, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, TARP SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, ROIFMAN SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, BARAITSER-WINTER SYNDROME 1, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, MENTAL RETARDATION, X-LINKED 12/35, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, COENZYME Q10 DEFICIENCY, PRIMARY, 4, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, SALLA DISEASE, HYPOPHOSPHATASIA, INFANTILE, AMYOTROPHIC LATERAL SCLEROSIS 11, ?REYNOLDS SYNDROME, DUANE-RADIAL RAY SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, DIAPHRAGMATIC HERNIA 3, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS, MITOCHONDRIAL MYOPATHY WITH DIABETES, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, C SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, VELOCARDIOFACIAL SYNDROME, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, WRINKLY SKIN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, 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, PAROXYSMAL NONKINESIGENIC DYSKINESIA, MENTAL RETARDATION, X-LINKED 98, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, ?ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2, LEUKODYSTROPHY, HYPOMYELINATING, 11, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, 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, SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DYSTONIA 25, ANDERSEN SYNDROME, IMMUNODEFICIENCY 23, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1, ?PRUNE BELLY SYNDROME, ?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, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, HYALINE FIBROMATOSIS SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, GITELMAN SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, CHONDRODYSPLASIA, GREBE TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, XERODERMA PIGMENTOSUM, GROUP D, MYOTONIA CONGENITA, DOMINANT, BRODY MYOPATHY, SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, BRUCK SYNDROME 1, COCKAYNE SYNDROME, TYPE B, AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, KAUFMAN OCULOCEREBROFACIAL SYNDROME, NOONAN SYNDROME 6, MENTAL RETARDATION, X-LINKED 93, ?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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, DIGEORGE SYNDROME, MEVALONIC ACIDURIA, COLD-INDUCED SWEATING SYNDROME 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, MENTAL RETARDATION, WITH OR WITHOUT NYSTAGMUS, FG SYNDROME 4, PARKINSONISM-DYSTONIA, INFANTILE, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ?SPINOCEREBELLAR ATAXIA 40, HYDROLETHALUS SYNDROME, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, LIMB-MAMMARY SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, AMYOTROPHIC LATERAL SCLEROSIS 18, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BURN-MCKEOWN SYNDROME, COHEN SYNDROME, MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, GLYCOGEN STORAGE DISEASE IXC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HYPOMAGNESEMIA 1, INTESTINAL, PROUD SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q, GALACTOSE EPIMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, 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, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BARTTER SYNDROME, TYPE 3, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, 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, HYPOMAGNESEMIA 3, RENAL, AICARDI-GOUTIERES SYNDROME 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MOHR-TRANEBJAERG SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 5, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, SPINOCEREBELLAR ATAXIA 7, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CEREBROOCULOFACIOSKELETAL SYNDROME 4, LYSINURIC PROTEIN INTOLERANCE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, DYSTONIA 6, TORSION, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, EPISODIC ATAXIA, TYPE 2, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, DESMOSTEROLOSIS, GM1-GANGLIOSIDOSIS, TYPE II, MOWAT-WILSON SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, MAST SYNDROME, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, COWCHOCK SYNDROME, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, TRIFUNCTIONAL PROTEIN DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, COUSIN SYNDROME, 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, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, NIEMANN-PICK DISEASE, TYPE A, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, POLYGLUCOSAN BODY MYOPATHY 2, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CHANARIN-DORFMAN SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, L-2-HYDROXYGLUTARIC ACIDURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, 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, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 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, CHILD SYNDROME, PCWH SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, SCHAAF-YANG SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, COLD-INDUCED SWEATING SYNDROME 1, CEREBROOCULOFACIOSKELETAL SYNDROME 2, GLYCOGEN STORAGE DISEASE XI, GLYCOGEN STORAGE DISEASE X, RITSCHER-SCHINZEL SYNDROME 1, WILSON-TURNER SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, ALEXANDER DISEASE, LIEBENBERG SYNDROME, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, 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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, ?GLYCOGEN STORAGE DISEASE XIII, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2, NONAKA MYOPATHY, ARTHROGRYPOSIS, DISTAL, TYPE 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE III, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, AMYOTROPHIC LATERAL SCLEROSIS 20, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, DYSTONIA-11, MYOCLONIC, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, BOUCHER-NEUHAUSER SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, CARDIOFACIOCUTANEOUS SYNDROME 4, KUFOR-RAKEB SYNDROME, ?CEROID LIPOFUSCINOSIS, NEURONAL, 12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, ATAXIA-TELANGIECTASIA-LIKE DISORDER, NATIVE AMERICAN MYOPATHY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, HELSMOORTEL-VAN DER AA SYNDROME, BECKWITH-WIEDEMANN SYNDROME, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, LIPOYLTRANSFERASE 1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, ?MARDEN-WALKER SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY, ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, HARTNUP DISORDER, EPILEPSY, PYRIDOXINE-DEPENDENT, PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY, KEPPEN-LUBINSKY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WELANDER DISTAL MYOPATHY, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], ARTS SYNDROME, GM2-GANGLIOSIDOSIS, AB VARIANT, ARTHROGRYPOSIS, DISTAL, TYPE 2A, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, LIANG DISTAL MYOPATHY, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, LEUKODYSTROPHY, HYPOMYELINATING, 6, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), KOOLEN-DE VRIES SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, BARTTER SYNDROME, TYPE 4B, DIGENIC, OGDEN SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, GABA-TRANSAMINASE DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MENKES DISEASE, PLEUROPULMONARY BLASTOMA, MUSCULAR DYSTROPHY, RIGID SPINE, 1, COENZYME Q10 DEFICIENCY, PRIMARY, 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 10, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, ROUSSY-LEVY SYNDROME, SILVER SPASTIC PARAPLEGIA SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 1B, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), DYGGVE-MELCHIOR-CLAUSEN DISEASE, LIVER FAILURE, TRANSIENT INFANTILE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, PONTOCEREBELLAR HYPOPLASIA TYPE 2A, HYPOMYELINATION, GLOBAL CEREBRAL, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ARTERIAL TORTUOSITY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A, NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES, CARNEY COMPLEX VARIANT, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ARTHROGRYPOSIS, DISTAL, TYPE 5D, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, MYOPATHY, SPHEROID BODY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H, FOLATE MALABSORPTION, HEREDITARY, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, AICARDI-GOUTIERES SYNDROME 2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, KENNY-CAFFEY SYNDROME, TYPE 1, JOUBERT SYNDROME 5, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A, DYSTONIA 9, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, MOLYBDENUM COFACTOR DEFICIENCY C, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, CILIARY DYSKINESIA, PRIMARY, 12, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, OPTIC ATROPHY PLUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 12, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, DEMENTIA, FAMILIAL BRITISH, ARTHROGRYPOSIS, LETHAL, WITH ANTERIOR HORN CELL DISEASE, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, DESBUQUOIS DYSPLASIA 2, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, BIOTINIDASE DEFICIENCY, ROBINOW SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, SIALIC ACID STORAGE DISORDER, INFANTILE, HELLP SYNDROME, MATERNAL, OF PREGNANCY, LCHAD DEFICIENCY, FATTY LIVER, ACUTE, OF PREGNANCY, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), DYSTONIA 16, ALLAN-HERNDON-DUDLEY SYNDROME, ?HYDROXYKYNURENINURIA, HEART-HAND SYNDROME, SLOVENIAN TYPE, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, TRANSCOBALAMIN II DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, TEMTAMY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, JOUBERT SYNDROME 8, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, NEMALINE MYOPATHY 8, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), PORETTI-BOLTSHAUSER SYNDROME, DEJERINE-SOTTAS DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, COCKAYNE SYNDROME, TYPE A, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, JOHANSON-BLIZZARD SYNDROME, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), GIANT AXONAL NEUROPATHY-1, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, LEUKODYSTROPHY, HYPOMYELINATING, 5, MICROPHTHALMIA, SYNDROMIC 12, SCLEROSTEOSIS 2, STIFF SKIN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, 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, LISSENCEPHALY 3, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, CHIME SYNDROME, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, AICARDI-GOUTIERES SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, COFFIN-SIRIS SYNDROME 4, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, ?LAURENCE-MOON SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, JOUBERT SYNDROME 14, VICI SYNDROME, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, COMBINED SAP DEFICIENCY, 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, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, GELEOPHYSIC DYSPLASIA 1, MICROCEPHALY, AMISH TYPE, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, MASA SYNDROME, CRASH SYNDROME, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, GAUCHER DISEASE, PERINATAL LETHAL, BRACHYDACTYLY, TYPE B1, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, NEMALINE MYOPATHY 9, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, FASCIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC, BROWN-VIALETTO-VAN LAERE SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 6, CZECH DYSPLASIA, MANNOSIDOSIS, BETA, SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, MUCOLIPIDOSIS II ALPHA/BETA, CEREBROCOSTOMANDIBULAR SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, MYOPATHY, MYOFIBRILLAR, 2, MYOPATHY, TUBULAR AGGREGATE, 1, CODAS SYNDROME, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, COENZYME Q10 DEFICIENCY, PRIMARY, 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB, 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, LEUKODYSTROPHY, HYPOMYELINATING, 4, 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, LUJAN-FRYNS SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, CILIARY DYSKINESIA, PRIMARY, 11, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, WAARDENBURG SYNDROME, TYPE 3, FACTOR X DEFICIENCY, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, TENORIO SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ?OTOFACIOCERVICAL SYNDROME 2, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, SHPRINTZEN-GOLDBERG SYNDROME, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, NIEMANN-PICK DISEASE, TYPE C2, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OLIVER-MCFARLANE SYNDROME, TROYER SYNDROME, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, KNIEST DYSPLASIA, XERODERMA PIGMENTOSUM, TYPE 1, HYPERPARATHYROIDISM, NEONATAL, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, PERLMAN SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, PARASTREMMATIC DWARFISM, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ENCEPHALOPATHY, NEONATAL SEVERE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, MYOPATHY DUE TO CPT II DEFICIENCY, WOLCOTT-RALLISON SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, HYPOPHOSPHATASIA, CHILDHOOD, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, LERI-WEILL DYSCHONDROSTEOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CRANIOSYNOSTOSIS 6, OLMSTED SYNDROME, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

Associated genes: TSC2, SCN2A, LAMB1, TMEM216, GPI, WDR73, VARS2, DCHS1, MECP2, HSPB3, BCKDHB, ACADS, DNAJB2, CC2D2A, NALCN, PSEN1, PHKA1, GLI3, COL3A1, MCOLN1, ARG1, ANO3, DPM1, FTL, MSH6, ADGRG1, LYRM7, AFG3L2, DBT, GSS, RNASEH2C, MORC2, ETHE1, MARS, SOX2, VMA21, SLC33A1, FREM1, UBA1, NSDHL, PAFAH1B1, GLYCTK, ERLIN2, SLC17A5, CFL2, PIEZO2, TCTN3, RANBP2, PTRH2, PIGO, SLC6A8, TBC1D24, MT-TE, JPH1, NGLY1, AGK, DOK7, TTN, GLRB, POMGNT1, GYG1, WNK1, INPP5E, POR, PMS2, TGFBR2, ANKLE2, ACACA, LARGE1, CYP7B1, TNNT1, GORAB, MKS1, LIPT1, CANT1, ATXN8, TRMT5, GCSH, SLC6A19, SBF2, UPB1, SNIP1, ALS2, MYOT, MT-TS1, ATRX, SCN4A, LAMP2, KL, KDM6A, APOA1, MEGF10, NDUFAF3, LBR, IFNG, CHMP1A, COL6A2, SLC26A2, SLC39A8, NDUFA1, IDS, GATAD2B, MT-ND4, ALDH7A1, GSN, THRA, PGM1, ASNS, DAG1, GCM2, BUB1B, MICU1, ABAT, SYNE1, KIAA2022, KCNJ10, CASK, ANTXR2, MGAT2, OPHN1, TNXB, WNT3, TRPV3, QARS, PTDSS1, PYCR1, MRE11A, AIFM1, KIF1BP, CBL, AMACR, SMARCE1, AHDC1, KCNJ1, PRX, RNASEH2A, SPARC, AAAS, VPS33B, DNM1, BICD2, FGD4, GALNT3, MMADHC, HSPD1, ROR2, FUS, MT-CYB, SLC25A46, ABCD4, SPG21, GAD1, RYR1, PPP2R2B, PGAM2, TRMU, C12orf57, KMT2A, DPAGT1, CYB5R3, NDUFA10, TRAPPC11, TYMP, GAMT, NDUFS7, VPS53, MT-CO1, TNFSF11, GATA1, TBX1, CAV3, MGME1, BANF1, LMOD3, LYST, PRKRA, ZFYVE27, PAX1, PRPS1, CHST3, SUFU, ALDH18A1, GSC, SMAD4, BCS1L, CDK5, DVL3, ARX, RPL11, CHST14, TMCO1, SLC25A15, CEP290, NDUFAF2, GOSR2, TPM2, PYGM, SLC6A5, SH3TC2, STT3A, CTDP1, STAC3, MATR3, TGM6, PQBP1, SLC6A3, NUP62, PPP2R1A, PNKP, AMER1, TCTN1, RSPH4A, SSR4, MMACHC, CECR1, PI4KA, TUBB2A, ICR1, WDR62, DLAT, HINT1, ALX3, COL5A2, CLPB, SPTBN2, ARID1B, COX15, STUB1, EZH2, KARS, ACAT2, WDR45, RPGRIP1L, CLP1, PCCA, CTNS, SERAC1, PEX13, AARS, MT-TH, OBSL1, ORC1, EFNB1, FAR1, TSFM, ECHS1, MUSK, XPC, CRYAB, NOD2, NAA10, CYP2U1, MTM1, GJC2, ADK, SLC7A7, POLA1, HMBS, CUL4B, EIF2B1, SPTLC2, MOGS, PAX7, NDST1, TMEM5, ECE1, VPS13A, SLC46A1, SEPN1, OTX2, KLHL41, EIF2B5, NPHP1, PIGL, PTPN11, PEX12, MAPRE2, CP, SPG7, B4GALT7, HADHB, STXBP1, PLCB1, EPG5, MT-CO2, IER3IP1, CHRNB1, ETFDH, D2HGDH, ABCA1, RRM2B, AP4M1, SMOC1, SPRTN, BRWD3, LIPE, CHAT, MT-TF, FKTN, FKRP, RTN2, HNRNPA2B1, NEU1, PDHX, ZMPSTE24, SNRPN, ANG, CLCNKB, SNRPB, RAB7A, GLRA1, AMT, SLC35A2, CTCF, MLYCD, KAT6A, POMK, PHGDH, HLA-DQB1, ATXN3, FMN2, TMEM43, NR0B1, POLR3B, PDSS2, PNPLA2, GTF2H5, COL11A1, EXOC8, PAX8, GM2A, GCH1, MT-TS2, SIGMAR1, PEX5, SKI, CCBE1, TUBA8, B3GALNT2, PEX14, GNPTAB, RPS26, TREX1, TBK1, SMN2, NDUFS8, RNU4ATAC, TECPR2, CPT2, POMT1, ACTB, ITGB4, KIF1C, SEMA3E, MOCS2, CACNA1B, COL1A2, NPC1, CHCHD10, SNX10, ST3GAL3, AP4B1, GFAP, THAP1, B3GALT6, COX6A1, CCT5, PNPO, GNAI2, TSR2, ACY1, MCCC2, BMP1, IDUA, HNRNPK, HCFC1, LIAS, MYH7, COL6A1, ZBTB20, FBXL4, KCNA1, PABPN1, UBE3B, WT1, AR, CEP41, IKBKAP, CDK5RAP2, BAG3, MLC1, DYSF, TRNT1, DES, ATP2B3, NBN, TPK1, COG6, EXOSC8, PRF1, TYROBP, KCNT1, DLD, SPAST, COQ2, TTC19, CAPN3, ESCO2, PNPLA6, RBCK1, CLCN7, SOX9, CUL7, KIF1A, OCRL, FIG4, FGFR2, HERC2, VAPB, PCCB, RPS28, TNNT3, SCP2, SCN11A, HOXB1, MAP2K2, AP5Z1, KMT2C, CLCNKA, ADCY6, PDK3, MPI, TRPV4, SLC34A3, CRLF1, PURA, RFT1, ATP2A1, SLC19A3, PPT1, ATXN8OS, AP1S2, ADAMTSL2, SACS, FAM126A, PITX1, MEF2C, HSPB8, C9orf72, ATP6AP2, HOXA13, EGR2, UBR1, ZC4H2, MTAP, PTRF, CSPP1, POC1A, SUCLG1, MYO18B, AUTS2, KIF5C, DHFR, GK, WWOX, EARS2, PTH, SPRED1, RBM10, KLC2, CDH3, LRP5, CCDC22, GNAS, KAT6B, SLC25A3, TCIRG1, HPRT1, COL5A1, CACNA1A, SPECC1L, AP4E1, DDR2, CCDC88C, L2HGDH, ALG3, BSND, CASR, XDH, FGF23, VIPAS39, BOLA3, PDCD1, SUCLA2, GPHN, UPF3B, ARNT2, BRAF, MCCC1, SNAP25, NDUFS3, LAMB3, LAMA3, PIGA, MED12, STIM1, UCHL1, ALPL, NDUFB3, NECAP1, MMAB, CTNNB1, MT-TL1, TREM2, KCNJ5, PLEC, TIA1, DARS2, VLDLR, SLC30A10, GNS, TCN2, KIF2A, CYP27B1, SC5D, TXNL4A, GMPPB, TAZ, NDUFS4, KCNB1, BRAT1, AASS, ALDH3A2, TMEM70, SLC52A2, ANKH, GDF5, HRAS, GLUL, NDN, TRIM2, SMC1A, DMGDH, DRD2, SLC5A7, FKBP14, FGFR1, FIBP, ATXN1, ERBB3, COQ9, FAM111B, POLG, COG4, SLC16A2, LRP2, ADCK3, ALDOA, CLIC2, TCTN2, FBN2, LMNB2, NIPBL, SLC2A10, OPTN, PSMB8, NDUFAF5, KCNQ2, FOXRED1, HK1, PEX1, NF1, VPS13B, NT5C2, COQ4, KCNH1, MAF, AARS2, ARHGAP11A, KANSL1, ITGA6, ABHD12, DYNC1H1, ERCC6, MT-ND3, ATP6V1B2, SCYL1, TCAP, CLCF1, VDR, SHOXY, KIF21A, DLG3, CHRNE, PIGN, SETX, GAA, MTFMT, NDUFS1, PTS, SLC12A6, PAX3, SLC9A6, STX11, ALB, ASXL1, WAS, B3GAT3, TGFB1, MRPS22, HYLS1, LONP1, MFSD2A, COLQ, KMT2D, EIF2AK3, SPEG, SPTLC1, ZFYVE26, TSC1, SLC52A3, MUT, SQSTM1, CHAMP1, COL6A3, EFEMP2, ETFA, NDUFB9, DNMT1, EXOSC3, MT-TQ, TRPM6, TINF2, AMPD1, PEX10, OFD1, B4GALT1, COLEC11, PCNA, PGM3, POLR1C, ALAD, KCTD17, AGA, SDHAF1, ISPD, PMPCA, PEX16, MED17, TMEM67, STRA6, MYF6, ARL13B, APOPT1, ATXN7, SMAD3, MTMR14, SLC25A20, HSPG2, C19orf12, TNFRSF11B, SURF1, C10orf2, F10, SYNE2, SOX10, SATB2, CAMTA1, ATIC, DICER1, ISCA2, SLC34A1, ERCC6L2, ARL6IP1, MMP2, TNFRSF1A, LAMA1, MYH14, DCAF8, FSHB, STT3B, WISP3, ADSL, TPI1, MT-ATP6, MT-ND6, IFIH1, NEFL, FUCA1, CYP27A1, IKBKG, TBC1D7, HEXB, ASPA, NRXN1, ATPAF2, CAV1, MAG, GRIN2B, PMM2, KCNJ6, MT-TK, MTHFR, PPP1R3A, MAGEL2, ALG11, GALC, MED25, WNT5A, ZEB2, SHANK3, NADK2, MANBA, RARB, MTPAP, SLC12A3, PRG4, NDRG1, ARSB, BCOR, LMBRD1, SEPSECS, FBP1, LAMB2, MMP1, PLEKHG5, COX8A, PIK3CA, REEP2, HEPACAM, ABCD1, GNAL, DNAJC19, ST3GAL5, DHTKD1, BMPER, PRKCG, POLD1, HNRNPA1, GFPT1, MTO1, CC2D1A, ECEL1, CNBP, ACAD8, GRID2, TP63, PRKAG2, ASAH1, COL2A1, ACOX1, SUOX, VPS37A, LDB3, NUBPL, ACTA1, VRK1, MFN2, RIN2, PDHB, ACADM, SMARCA4, TUBB2B, PCLO, NDUFAF6, CDKL5, FAM134B, GCLC, SERPINA6, PEX3, IGF2, KCNJ18, SMN1, NRAS, ATP13A2, XYLT1, NR1I3, MAPT, NDUFA12, CAD, MLH1, KIF5A, NPC2, ALDH6A1, MET, HEXA, DIS3L2, SCARF2, RAI1, GLA, SAMD9, GFM1, HADHA, PLOD1, DGUOK, DCX, PLOD3, NDUFAF4, TUBB4A, LMNA, KANK1, MT-TT, POGZ, ACAD9, GBA2, MYBPC1, GMPPA, SNX14, MPC1, G6PC, LRSAM1, EEF1A2, DSE, NDUFS2, FOXO1, ERCC5, SNAP29, DPYD, GTPBP3, DYM, OCLN, UQCRQ, B3GLCT, MSTN, MEGF8, CASQ1, CTC1, MAP2K1, NKX2-1, COX14, RPS6KA3, STAMBP, ERCC8, NDUFV1, TDP1, KLHL40, INS, DNM1L, PAM16, PIK3R2, BSCL2, TMEM237, COL7A1, ATL1, COA6, CHMP2B, PFKM, SETBP1, DDHD2, PPARG, KIF14, KIAA1033, TNPO3, NBAS, SERPINH1, FBXO38, ZIC1, SDHD, SLC22A5, SLC25A19, SOD1, COG1, LMX1B, TSHB, ZNF335, KDM5C, FLNA, CNTN1, SIL1, COG5, INF2, KCNK9, ACP2, COL4A1, RAPSN, UQCC2, LEMD3, SPTAN1, LTBP2, CLCN1, KATNB1, FAM177A1, CNNM2, PSAP, PTCHD1, TMEM173, FHL1, HSD17B10, FOXC2, GLDC, AIMP1, KIAA0586, MYH2, ATP5A1, ZDHHC9, USP9X, DCTN1, HCCS, DNA2, DNAJB6, HNRNPDL, ELAC2, ZBTB42, SYNGAP1, ALG14, TRPM7, NDUFA9, ACADSB, TPM3, H19, PTEN, FGFR3, MTTP, POLG2, TNNT2, PMP22, DST, COX10, CHRND, EHMT1, B4GALNT1, SLC13A5, ALG6, AHI1, LRP4, GBE1, SERPINC1, THOC2, HSD17B4, SDHA, SLC29A3, COL12A1, HDAC8, ADGRG6, PRICKLE2, DDX3X, ADAT3, CLDN16, CSF1R, ORAI1, FH, FAT4, DNM2, PHKG2, PNKD, CPT1C, PANK2, ANK3, GPX4, IGHMBP2, HADH, ATP7A, TAF6, FGF10, KIF22, ERCC4, DMD, TFG, HSPB1, SYT2, TCF4, SOST, TAF2, MOCS1, PGAP3, RNASET2, SLC25A1, GATM, VAMP1, SLC1A4, CREBBP, GDF6, TIMM8A, C12orf65, GBA, SARS2, FASTKD2, RAB3GAP1, MARS2, PIP5K1C, HPCA, CACNA1S, SLC35A3, STRADA, TRH, CLASP1, PIGV, TARS2, MT-ND2, XK, PTH1R, MT-ND4L, TMEM165, EDNRB, LAMA2, PEX6, TSEN54, RARS2, NDUFS6, MTR, ADNP, PGAP2, AGPAT2, SLC2A1, HTRA1, PSPH, SLC25A12, MPLKIP, TBX5, NDUFB11, SLC12A1, TRIM37, NARS2, TUFM, ALG13, ETFB, GNE, ISCU, CWF19L1, TGM1, PGAP1, HLCS, CD59, CD96, ABCC8, FAM20C, COL1A1, MPZ, PRPH, CHRNG, TBCE, SRD5A3, NDUFA11, PIGT, ERCC1, MT-CO3, EBP, NKX3-2, YARS2, RAB27A, RNASEH1, COX20, MYO5A, RSPH9, SCO1, FOXG1, SLC5A5, ARHGEF9, AGL, SMPD1, HIBCH, SZT2, PHYH, GAN, EIF2B2, PGK1, RBM28, TK2, SLC25A22, COL9A3, MAN2B1, ARFGEF2, COX6B1, IBA57, BMP4, SGCB, ALG1, TGFBR1, PEX7, SEPT9, SCO2, MPV17, PLA2G6, ALG2, TRIM32, NDUFV2, SCN8A, DARS, SIX3, ERCC2, AP4S1, LAMC2, COL13A1, REEP1, F7, PDP1, MTMR2, RAB3GAP2, EIF2B4, GFER, AUH, EMD, OPA3, KIF7, FLVCR2, CNTNAP1, ABHD5, DNMT3B, PHOX2A, TGDS, GRIA3, USP8, CYP2R1, PTCH1, WNT7A, CHD7, MT-ND5, PPP2R5D, FBLN5, RBM8A, NIPA1, RNASEH2B, PNPLA8, XYLT2, PET100, CHRNA1, TRAF3IP2, OAT, CHKB, CPOX, PLP1, LMNB1, UQCC3, LINS1, LPIN1, TSEN2, ARSA, LTC4S, POU1F1, GRM1, PHKB, GARS, COG8, PTCH2, SGCA, LIFR, BCKDHA, DMPK, SPG20, ZFPM2, DOCK6, COL11A2, DDX11, POMGNT2, TNNI2, DPM2, ITM2B, AGRN, NSUN2, YARS, ELOVL4, NDUFA2, SALL4, LDHA, COL4A2, TUBG1, SLC35C1, RTTN, SMCHD1, AP1S1, ATP6V0A2, GCDH, GDAP1, FLVCR1, POMT2, IARS2, NOTCH3, FBXO7, EYA1, PLOD2, PCBD1, CCDC78, ACADVL, ERBB4, CYP24A1, TBC1D20, DHCR24, ADCY5, NFU1, SPATA5, TACO1, JAM3, BIN1, CTSD, ARHGAP31, PLIN1, LARS, TTR, FLNC, KCNJ11, GNA11, GJA1, DCPS, PHF6, ZBTB18, MYH3, DDHD1, SPR, KBTBD13, PFN1, MRPS16, NFIX, KCNQ1OT1, PRODH, MVK, KPTN, TGFB3, DDC, FA2H, KCNJ2, GCK, ATCAY, KIF1B, NDUFAF1, DPM3, PYCR2, SIX1, SGCD, PEX26, UROS, NDE1, GALE, EXT2, SHOX, RMND1, RAB18, VCP, SPINK5, C5orf42, GYS1, ACO2, ATP1A3, SLC25A4, KYNU, TUBA1A, TOR1A, TRDN, BTD, ITGA7, COASY, RPIA, HLA-DRB1, PSAT1, GATA6, LITAF, CDKN1C, RNF125, OGDH, TUBB3, ZDHHC15, TBX15, TFAP2A, TH, CHRM3, DDOST, INPPL1, PNPT1, LYRM4, GJB1, GUSB, SUMF1, ALDH5A1, AIP, GLE1, GPC3, XPA, NEFH, PUS1, POLR3A, RAB23, SMS, GJB2, PEX2, ATXN2, TARDBP, DHCR7, FKBP10, PRNP, PDHA1, ANO5, ENTPD1, APTX, GLB1, SPG11, LRPPRC, SLC39A13, QDPR, FARS2, NSD1, SGCE, NEB, PRKACA, RAD50, INSR, TRPS1, NOTCH1, KIAA0196, SCN9A, EIF2B3, CEP57, DIAPH1, MSH2, COL17A1, ITCH, ZNF592, ROGDI, SLC16A1, UBE3A, CPT1A, SGCG, GNPAT, IDH2, MYH8, RSPRY1, L1CAM, OPA1, SFXN4, FBN1, RET, ENO3, PEX19, PNP, PC, MT-TD, HOXD13, DOLK, AMPD2, NAGA, MPDU1, KCNC3, COL4A3BP, MYH11, MT-ND1, ATR, MMAA, PIK3R5, B4GAT1, FTO, MTRR, KRIT1, PORCN, CACNA1D, SLC22A18