MUSCLE AND SOFT TISSUES

Associated diseases: SPINAL MUSCULAR ATROPHY, JOKELA TYPE, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, MIRROR MOVEMENTS 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, MULTIPLE ENDOCRINE NEOPLASIA IIB, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 19, DANON DISEASE, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, BOUCHER-NEUHAUSER SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 10, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, CHOANAL ATRESIA AND LYMPHEDEMA, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, RUIJS-AALFS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, ARTHROGRYPOSIS, DISTAL, TYPE 3, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), HELSMOORTEL-VAN DER AA SYNDROME, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, MEND SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, SPINAL MUSCULAR ATROPHY-4, ?MARDEN-WALKER SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, SINGLETON-MERTEN SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 6B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, IMMUNODEFICIENCY 44, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY, ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16, JOUBERT SYNDROME 15, JOUBERT SYNDROME 25, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, KEPPEN-LUBINSKY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, JOUBERT SYNDROME 24, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, WELANDER DISTAL MYOPATHY, TIMOTHY SYNDROME, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MALONYL-COA DECARBOXYLASE DEFICIENCY, ARTS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GM2-GANGLIOSIDOSIS, AB VARIANT, MIRROR MOVEMENTS 2, GLYCOGEN STORAGE DISEASE IA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), WARBURG MICRO SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, HYPOKALEMIC PERIODIC PARALYSIS 1, MYOPATHY, MYOFIBRILLAR, 4, SENGERS SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, BARTTER SYNDROME, TYPE 4B, DIGENIC, CORNELIA DE LANGE SYNDROME 5, ?AL-GAZALI-BAKALINOVA SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, OGDEN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, NEMALINE MYOPATHY 6, AUTOSOMAL DOMINANT, ADAMS-OLIVER SYNDROME 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MYOPATHY, CENTRONUCLEAR, 3, LEUKODYSTROPHY, HYPOMYELINATING, 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, VAN MALDERGEM SYNDROME 2, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, HYPERALDOSTERONISM, FAMILIAL, TYPE III, ?MICROHYDRANENCEPHALY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, PEROXISOME BIOGENESIS DISORDER 14B, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, CPT DEFICIENCY, HEPATIC, TYPE IA, KANZAKI DISEASE, MUSCULAR DYSTROPHY, RIGID SPINE, 1, COENZYME Q10 DEFICIENCY, PRIMARY, 3, LATERAL MENINGOCELE SYNDROME, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, COENZYME Q10 DEFICIENCY, PRIMARY, 1, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, MARFAN LIPODYSTROPHY SYNDROME, LIVER FAILURE, TRANSIENT INFANTILE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, PONTOCEREBELLAR HYPOPLASIA TYPE 2A, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, FUMARASE DEFICIENCY, COLE DISEASE, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION, SHPRINTZEN-GOLDBERG SYNDROME, 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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, NEMALINE MYOPATHY 5, AMISH TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, AMYOTROPHIC LATERAL SCLEROSIS 11, STORMORKEN SYNDROME, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, PIERSON SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 12/35, ARTHROGRYPOSIS, DISTAL, TYPE 5D, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, MITOCHONDRIAL MYOPATHY WITH DIABETES, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, SPHEROID BODY, ?SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, ARTHROGRYPOSIS, DISTAL, TYPE 5, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, 3MC SYNDROME 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MUSCULAR DYSTROPHY, CONGENITAL, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, WRINKLY SKIN SYNDROME, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, MYOPATHY, MYOFIBRILLAR, 1, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, NATIVE AMERICAN MYOPATHY, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, HYPOMAGNESEMIA 6, RENAL, TROYER SYNDROME, LEGIUS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MENTAL RETARDATION, X-LINKED 98, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, OPTIC ATROPHY PLUS SYNDROME, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MYASTHENIC SYNDROME, CONGENITAL, 5, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, NEPHROTIC SYNDROME, TYPE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, BRITTLE CORNEA SYNDROME 2, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ?MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, ?MYASTHENIC SYNDROME, CONGENITAL, 18, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BECKER MUSCULAR DYSTROPHY, IMMUNODEFICIENCY 23, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, GLYCEROL KINASE DEFICIENCY, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, MICROPHTHALMIA, SYNDROMIC 14, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, ?IMMUNODEFICIENCY 22, ?AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, EHLERS-DANLOS SYNDROME, TYPE VI, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, ?GLYCOGEN STORAGE DISEASE XV, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, TRYPSINOGEN DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ESCOBAR SYNDROME, ?SPASTIC PARAPLEGIA 63, MYOPATHY, MYOFIBRILLAR, 3, LEUKODYSTROPHY, HYPOMYELINATING, 9, LYMPHEDEMA, HEREDITARY, ID, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, GITELMAN SYNDROME, GABA-TRANSAMINASE DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XVII, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, ?HYDROXYKYNURENINURIA, AMYOTROPHIC LATERAL SCLEROSIS 17, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, CAPOS SYNDROME, LYMPHEDEMA, HEREDITARY, IC, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, TRANSCOBALAMIN II DEFICIENCY, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CPT II DEFICIENCY, LETHAL NEONATAL, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, AU-KLINE SYNDROME, MYOTONIA CONGENITA, DOMINANT, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, WARBURG MICRO SYNDROME 3, MCLEOD SYNDROME WITH OR WITHOUT CHRONIC GRANULOMATOUS DISEASE, 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, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, MYOPATHY, CENTRONUCLEAR, 4, NEPHROTIC SYNDROME, TYPE 9, BROWN-VIALETTO-VAN LAERE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 10, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, COCKAYNE SYNDROME, TYPE B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, ANGIOEDEMA, HEREDITARY, TYPE III, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, PORETTI-BOLTSHAUSER SYNDROME, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), MYOPATHY, DISTAL, 4, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, EPISODIC ATAXIA/MYOKYMIA SYNDROME, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, ?MENTAL RETARDATION, X-LINKED 91, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, BROWN-VIALETTO-VAN LAERE SYNDROME 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 4}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MIYOSHI MUSCULAR DYSTROPHY 3, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, CENTRONUCLEAR MYOPATHY 5, SHORT SYNDROME, CHOREOACANTHOCYTOSIS, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, LEUKODYSTROPHY, HYPOMYELINATING, 5, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, BETHLEM MYOPATHY 1, ?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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, SCHAAF-YANG SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 10, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, AL-RAQAD SYNDROME, COLD-INDUCED SWEATING SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOTONIC DYSTROPHY 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, AICARDI-GOUTIERES SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, GLYCOGEN STORAGE DISEASE IXC, GLYCOGEN STORAGE DISEASE XI, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, COENZYME Q10 DEFICIENCY, PRIMARY, 5, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, ANGIOEDEMA, HEREDITARY, TYPES I AND II, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?JOUBERT SYNDROME 26, VICI SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, ?SPINOCEREBELLAR ATAXIA 34, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, HYPOMAGNESEMIA 1, INTESTINAL, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, LEBER OPTIC ATROPHY, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, KOSAKI OVERGROWTH SYNDROME, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, WHITE-SUTTON SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6, SINGLETON-MERTEN SYNDROME 2, MCKUSICK-KAUFMAN SYNDROME, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MCARDLE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MYOPATHY, MYOFIBRILLAR, 2, BARTTER SYNDROME, TYPE 3, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, D-2-HYDROXYGLUTARIC ACIDURIA, MYHRE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MYOTONIA CONGENITA, RECESSIVE, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, MENTAL RETARDATION, X-LINKED 94, PSEUDOHYPOALDOSTERONISM, TYPE 2, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, NEPHROTIC SYNDROME, TYPE 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 17, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, LEUKODYSTROPHY, HYPOMYELINATING, 3, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, HEMOCHROMATOSIS, TYPE 2A, NEMALINE MYOPATHY 9, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, RITSCHER-SCHINZEL SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, 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, MANNOSIDOSIS, BETA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, LYSINURIC PROTEIN INTOLERANCE, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, GALLOWAY-MOWAT SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, PRIMROSE SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, SPONDYLOPEIMETAPHYSEAL DSYPLASIA, FADEN-ALKURAYA TYPE, TRANSALDOLASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERCALCEMIA, INFANTILE, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, MYOPATHY, TUBULAR AGGREGATE, 1, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, LYMPHEDEMA, HEREDITARY, III, ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY, DESANTO-SHINAWI SYNDROME, CYCLIC VOMITING SYNDROME; CVS, MENTAL RETARDATION, X-LINKED 1, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, MENTAL RETARDATION, X-LINKED 99, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, NEU-LAXOVA SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LEBER OPTIC ATROPHY AND DYSTONIA, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), VLCAD DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, COENZYME Q10 DEFICIENCY, PRIMARY, 7, XIA-GIBBS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COENZYME Q10 DEFICIENCY, PRIMARY, 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MUSCLE GLYCOGENOSIS, MAST SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, SPINOCEREBELLAR ATAXIA 36, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, TRIFUNCTIONAL PROTEIN DEFICIENCY, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, ARTHROGRYPOSIS, DISTAL, TYPE 2A, KOOLEN-DE VRIES SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, HYPOMAGNESEMIA 2, RENAL, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BARTTER SYNDROME, TYPE 1, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, WIEACKER-WOLFF SYNDROME, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, POLYGLUCOSAN BODY MYOPATHY 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OLIVER-MCFARLANE SYNDROME, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, GROWTH RETARDATION, DEVELOPMENTAL DELAY, FACIAL DYSMORPHISM, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, CHANARIN-DORFMAN SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ?MYOSCLEROSIS, CONGENITAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, HYPEREKPLEXIA 3, EPISODIC ATAXIA, TYPE 6, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, OSTEOGENESIS IMPERFECTA, TYPE XIII, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, IMMUNODEFICIENCY 10, SPASTIC PARAPLEGIA 2, X-LINKED, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, ?MYOFIBROMATOSIS, INFANTILE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CRANIOECTODERMAL DYSPLASIA 2, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, CEROID LIPOFUSCINOSIS, NEURONAL, 3, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 8, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, INFANTILE MYOFIBROMATOSIS 1, JOUBERT SYNDROME 14, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, GLYCOGEN STORAGE DISEASE X, MYOPATHY DUE TO CPT II DEFICIENCY, CARDIOMYOPATHY, DILATED, 1X, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, ?GLYCOGEN STORAGE DISEASE XIII, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, LOEYS-DIETZ SYNDROME 5, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9, CEROID LIPOFUSCINOSIS, NEURONAL, 10, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ATAXIA-OCULOMOTOR APRAXIA 3, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEPHROTIC SYNDROME, TYPE 6, BRODY MYOPATHY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, NONAKA MYOPATHY

Associated genes: PLCE1, CHMP2B, SQSTM1, FGFR1, WDR73, VARS2, PRSS1, HSPB3, GPT2, ACADS, DNAJB2, GNA11, NALCN, CUL3, VPS13A, COL3A1, ADGRG1, ENPP1, POLD1, TARDBP, SDHA, SPARC, VMA21, CASR, UBA1, NSDHL, CLN3, GLYCTK, PTPN14, DST, ITGA3, DPM2, FH, TBC1D24, PNPT1, AGK, TRPM7, G6PC, POMGNT1, ARFGEF2, WNK1, SGCG, KANSL1, SBF1, ACACA, LARGE1, MTMR14, MYO18B, WWOX, TRMT5, ANO10, MBD5, ALS2, MYOT, MT-TS1, IFIH1, SCN4A, LAMP2, APOA1, MEGF10, NDUFAF3, SPINK5, COL6A2, SLC39A8, NDUFA1, GNAS, CHAMP1, THRA, LMNB2, C2, DAG1, CAMTA1, LAMA1, MT-ND6, CASK, SYNE1, TNXB, PGM1, STAT2, ALAD, MYOM1, MRE11A, AIFM1, CBL, AHDC1, KCNJ1, TALDO1, MT-TD, SUCLA2, AAAS, BMP1, MKKS, UBR1, GJC2, MT-CYB, ABCD4, ATP6V1B2, KRAS, RYR1, FBXL4, AGT, PNPLA6, KMT2A, FAH, NDUFA10, GAMT, NDUFS7, VPS53, MT-CO1, ISPD, CAV3, BANF1, NCF2, ALDOA, AGL, PEX26, CTNNB1, PRPS1, NDUFS3, SCO2, SMAD4, BCS1L, MTHFR, PIGY, CHST14, RAD51, NDUFAF2, TPM2, IARS2, CTDP1, KBTBD13, NARS2, COLQ, PPP2R1A, PNKP, FLVCR1, FZD6, CPT2, TPI1, AIP, DNAH14, LRPPRC, STAMBP, TANGO2, NPHS1, TRMU, COX15, PIK3R5, KIF11, PTPRO, CTNS, B4GAT1, PEX13, MT-TH, GNE, KAT6A, FAR1, ECHS1, MUSK, CHMP1A, CRYAB, KIAA2022, TRIP4, MTM1, TTC19, ADK, SLC7A7, SDHAF1, CUL4B, DPM1, SLC6A5, RAB18, HINT1, PIGC, CYBB, SEPN1, UNC80, PROKR2, AP4S1, SLC34A3, LAMA2, NONO, COL5A2, PEX12, GMPPA, PIEZO2, FMN2, NDUFAF5, RARS, MT-CO2, D2HGDH, SOD1, PTPN11, COL6A1, SPRTN, KIF7, MT-TF, FKTN, CIDEC, FKRP, PTRH2, B4GALT1, ZMPSTE24, NLRP5, ERCC6, GRIN2B, RNF113A, SLC35A2, CHAT, MICU1, POMK, ATXN3, TMEM43, TCAP, PDSS2, IQSEC2, GM2A, SIGMAR1, DMPK, NDUFS2, CCBE1, PLIN1, B3GALNT2, MLYCD, CYBA, SMN2, QARS, TECPR2, PLEKHG5, NAA10, VPS11, PGAM2, KIF1C, STIM1, PGK1, MOCS2, COL1A2, ATL1, CHCHD10, KLHL3, DNM1, AP4B1, TMEM237, PDSS1, VPS37A, ASCC1, APOPT1, ACY1, MCCC2, UBE2A, MYH7, NDUFS4, ZBTB20, KCNA1, SLC25A1, AR, BAG3, COX8A, PGAP1, DES, MT-CO3, TPK1, PRF1, IGHMBP2, LIAS, ARHGDIA, USP8, RSPRY1, PET100, RBCK1, GNAI2, KIF1A, SERPING1, FIG4, SLC33A1, VAPB, RRM2B, DOK7, SCN11A, SGCD, PEX5, CLCNKA, CCDC78, NDUFAF1, DPAGT1, TRPV4, ANO5, PURA, NOTCH1, KLHL41, ATP2A1, FXYD2, PTRF, NAGA, NDUFA12, GPI, MEF2C, C9orf72, SNIP1, CFL2, SUCLG1, EXOSC8, KIF5C, GK, MAFB, EARS2, THSD1, SPRED1, MRPS16, CCDC22, SYT2, HARS, STAC3, AP4E1, TAZ, XDH, FGF23, CLCNKB, BOLA3, EPG5, UPF3B, BRAF, SNAP25, DMD, NCF1, KRIT1, LIMS2, NDUFB3, PHKB, MT-ATP6, MT-TL1, TMEM70, DNAJB6, DARS2, FLT4, CTCF, SLC29A3, CYP27B1, KLC2, GMPPB, PEX11B, RBM28, MGME1, KCNJ5, SLC52A2, B4GALNT1, MT-TS2, TRIM2, SMC1A, DMGDH, PLEC, PLP1, VDR, FOXP1, PEX3, FAM111B, TSEN54, SOX18, EMC1, ADCK3, RNASEH2C, BSND, PSMB8, SARS2, FOXRED1, HK1, BVES, FARS2, COQ4, KCNH1, DHTKD1, ABHD12, DYNC1H1, MT-ND3, SCYL1, NDUFV1, NBAS, MYO1E, KIF21A, DLG3, SACS, CHRNE, SETX, MTFMT, NDUFS1, SLC12A6, TBCK, ZC4H2, RMND1, RFT1, FAM126A, ENO3, TYMP, MFSD2A, VCP, MTR, SPEG, ZFYVE26, SLC52A3, CACNA1C, SCO1, HADHA, CLUAP1, COL9A3, TRMT10A, ADCK4, COQ9, NDUFB9, DNMT1, SERAC1, MT-TQ, TRIM37, AMPD1, PNPLA8, PIK3R1, PEX10, PUS1, COLEC11, PCNA, GBA2, PGM3, CHRNB1, KIF1BP, PMPCA, PEX16, TIA1, PRDM5, FHL1, SLC25A20, HSPG2, NLRP3, SKI, C10orf2, SYNE2, TRDN, ABAT, ISCA2, DCHS1, HACE1, F2, TNFRSF1A, ASAH1, MYH14, FSHB, MED13L, SLC25A46, ADSL, GAA, F7, GATAD2B, TCTN2, HEXB, AP2S1, CARS2, MAG, XPNPEP3, PMM2, KCNJ6, CDK5, PPP1R3A, MAGEL2, WDR35, ERCC8, LRP4, NADK2, NEB, MANBA, KIAA0556, CCDC115, LIPE, WISP3, PDP1, PNPLA2, LAMB2, NOP56, PIK3CA, LTBP4, SIL1, HNRNPA1, ABCA1, MTO1, ECEL1, CNBP, TBK1, GRID2, PRKAG2, CTSD, ZDHHC15, NUBPL, ACTA1, VRK1, RIN2, ACVR1, GBE1, HTR1A, NDUFAF6, CDKL5, FAM134B, GCLC, KDM5C, MRPS22, KCNJ18, NOS3, SGCA, APTX, MYF6, GATA2, KIF5A, ALDH6A1, MT-TK, HNRNPK, GFPT1, POGZ, PLOD1, PLOD3, NDUFAF4, ERLIN2, LMNA, CRLF1, FBXO38, ACAD9, SOX5, MYBPC1, SNX14, MPC1, DNM1L, TNNT1, EEF1A2, DSE, ABCG8, ERCC5, FKBP14, GTPBP3, TMEM173, ORAI1, TSHB, CASQ1, AP1S2, COX14, PANK2, WAS, TSEN2, INS, MOCS1, PIK3R2, PGAP2, XK, COA6, PFKM, YARS2, TNPO3, PEX1, HSD17B10, COX6A1, SDHD, SLC22A5, SLC25A19, VEGFC, LMX1B, ZNF335, NEFH, CNTN1, MAB21L2, BICD2, COL4A1, RAPSN, UQCC2, LTBP2, CLCN1, TMEM165, CNNM2, PSAP, PTCHD1, SMS, FOXC2, AIMP1, MYH2, FBN1, MT-ND1, USP9X, DCTN1, DNA2, COG4, UQCRQ, HNRNPDL, CWF19L1, WAC, MCCC1, TTN, NDUFA9, ACADSB, PTEN, F13A1, SMN1, POLG2, PMP22, AMER1, TK2, CHRND, ATPAF2, SLC13A5, HIKESHI, F12, SSR4, THOC2, HDAC8, ADGRG6, PRICKLE2, DDX3X, CLDN16, MT-ND4, FAT4, PHKG2, B3GAT3, MED25, RPS6KA3, ANK3, NEFL, HADH, TGFB1, TFG, POMT1, TCF4, PLEKHG2, PGAP3, TRPM6, GATM, HERC2, SLC1A4, C12orf65, FASTKD2, ABCC9, PIP5K1C, SERPINA6, CACNA1S, SLC35A3, STRADA, UCHL1, TARS2, GRM1, MT-ND4L, ABCC8, F10, PEX6, POLG, MTAP, NDUFS6, ADNP, CD27, BSCL2, AGPAT2, NDUFB11, SLC25A12, SLC12A1, SLC12A3, TMEM199, DHFR, REEP2, AMPD2, PRDM8, ISCU, NDUFS8, CAV1, ATP2B3, DNAJC19, PRPH, CHRNG, PRKACA, PABPN1, NDUFA11, PIGT, DNM2, COQ7, EBP, UBN1, SLC1A3, RNASEH1, PPARG, COL5A1, OAT, HIBCH, ELAC2, MT-TE, BTK, SLC25A22, COL6A3, COX6B1, IBA57, SGCB, NEU1, ALG2, COX20, SCN8A, AARS, KCNT1, AFG3L2, COL13A1, REEP1, PDGFRB, CECR1, XYLT2, CPT1A, EMD, POU1F1, CCDC174, MT-ND2, ABHD5, ATP6V0A2, MATR3, GRIA3, CEP104, CYP2R1, TAF1, FBLN5, NLRP12, RBM8A, ZNF592, LRSAM1, CAPN3, MARS2, TRAPPC11, FRMD4A, PIEZO1, UQCC3, LINS1, LPIN1, TPM3, SLC34A1, EPHX1, PIGG, NPHS2, MORC2, XRCC4, GYG1, SPG21, LIFR, SPG20, DOCK6, AARS2, MRPL44, AGRN, NSUN2, TSFM, ELOVL4, SALL4, LDHA, FMR1, PDGFRA, LMOD3, SLC35C1, SLC4A1, AP1S1, NDUFA2, CLPB, POMT2, NOTCH3, ABCG5, NDST1, OPA1, ACADVL, TRIM32, CYP24A1, TBC1D20, TUFM, ADCY5, NFU1, SPATA5, TXN2, TCN2, LARS, TTR, FLNC, KCNJ11, PQBP1, GJA1, DCPS, DYSF, MYH3, SLC9A6, INF2, SFXN4, MECP2, ITPA, KPTN, TGFB3, NLRC4, GCK, CHRNA1, PYGM, NRAS, PYCR2, FBN2, NDE1, TUBB2A, HADHB, C19orf12, SLC25A26, SURF1, DDX58, GYS1, ACO2, ATP1A3, SLC25A4, KYNU, ITGA7, COASY, PSAT1, PHKA1, PIGN, TUBB3, LDB3, SHANK3, DDOST, HGSNAT, LYRM4, GJB1, GUSB, SUMF1, LCK, GLE1, FLNA, BIN1, COQ2, NECAP1, ALDH18A1, HSD17B4, CEP41, LYST, ENTPD1, GLB1, SPG11, SLC39A13, IER3IP1, EXT2, CD59, INSR, KIAA0196, SCN9A, NDUFV2, DIAPH1, FLVCR2, SLC25A32, PACS1, SLC16A1, MARS, GLA, MYH8, L1CAM, MT-ND5, TACO1, ATP5A1, RET, PEX19, GALNT14, POMGNT2, DCC, EXOSC3, RARS2, MPDU1, MYH11, PEX2, CHKB, FTO, MTRR, COX10, LYRM7, HFE2