MUSCLE AND SOFT TISSUES

?GLYCOGEN STORAGE DISEASE XV, GLYCOGEN STORAGE DISEASE IV, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, GLYCOGEN STORAGE DISEASE X, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, POLYGLUCOSAN BODY MYOPATHY 2, MCARDLE DISEASE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GLYCOGEN STORAGE DISEASE IXC, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUSCLE GLYCOGENOSIS, MYHRE SYNDROME, GLYCOGEN STORAGE DISEASE II, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, GLYCOGEN STORAGE DISEASE 0, MUSCLE, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPOMYELINATION, GLOBAL CEREBRAL, GLYCOGEN STORAGE DISEASE VII, ?GLYCOGEN STORAGE DISEASE XIII, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY

NCF1, ALDOA, AGL, GBE1, PHKB, SMAD4, PRKACA, PGAM2, PGM1, PHKG2, ENO3, GYS1, GCK, GPI, PYGM, PPP2R1A, GYG1, PGK1, SLC25A1, TPI1, LIPE, PFKM, PHKA1, HK1, SLC25A12, GAA, SPATA5, INS

NON-IMMUNE HYDROPS FETALIS, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, LYMPHEDEMA, HEREDITARY, IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DUCHENNE MUSCULAR DYSTROPHY, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MIYOSHI MUSCULAR DYSTROPHY 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, MYOPATHY, MYOFIBRILLAR, 1, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, NEMALINE MYOPATHY 5, AMISH TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, MYOPATHY, DISTAL, TATEYAMA TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

ACTA1, TPM2, TTN, CAV3, DAG1, TPM3, TCAP, MYH11, NEB, DYSF, TNNT1, MYH3, MYH8, DES, FLT4, BIN1, DMD, MYBPC1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, LEBER OPTIC ATROPHY AND DYSTONIA, GLYCOGEN STORAGE DISEASE XI, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, FUMARASE DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, D-2-HYDROXYGLUTARIC ACIDURIA, MYHRE SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, LEBER OPTIC ATROPHY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 16, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

NDUFS3, LDHA, SUCLA2, MPC1, NDUFB3, NDUFS1, NDUFAF3, NDUFAF6, SMAD4, MT-ATP6, MT-ND6, MT-ND4, NDUFA11, SDHA, NOS3, NDUFS6, NDUFAF2, SLC16A1, NDUFA1, NDUFA12, MT-ND4L, CASK, PPARG, D2HGDH, MT-CO2, SCO1, WNK1, NDUFS4, NDUFV2, SUCLG1, NDUFB9, COX20, SDHD, NDUFAF4, MT-ND2, LRPPRC, COX6B1, PDP1, ACO2, FH, MT-ND1, TACO1, ATP5A1, NDUFS8, NDUFS2, MT-CO3, MT-ND5, NDUFA2, MT-CYB, UQCRQ, NDUFA9, NDUFAF5, COX8A, NDUFV1, NDUFB11, COX14, RPS6KA3, DDOST, SURF1, NDUFA10, INS, MT-ND3, COX6A1, NDUFS7, MT-CO1, SCO2

LYSYL HYDROXYLASE 3 DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, LOEYS-DIETZ SYNDROME 5, INFANTILE MYOFIBROMATOSIS 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CAMURATI-ENGELMANN DISEASE, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, CORPUS CALLOSUM, PARTIAL AGENESIS OF, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, KOSAKI OVERGROWTH SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, ?IMMUNODEFICIENCY 22, SHORT SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DUCHENNE MUSCULAR DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, IA, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, ?MYOSCLEROSIS, CONGENITAL, MYASTHENIC SYNDROME, CONGENITAL, 19, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMMUNODEFICIENCY 44, COWCHOCK SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, CLOVE SYNDROME, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, PORETTI-BOLTSHAUSER SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, TRYPSINOGEN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XIII, MYOPATHY, MYOFIBRILLAR, 2, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MARFAN LIPODYSTROPHY SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, MYOPATHY, DISTAL, 4, BETHLEM MYOPATHY 1, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, ?MYASTHENIC SYNDROME, CONGENITAL, 17, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PIERSON SYNDROME, FACTOR X DEFICIENCY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XVII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, STIFF SKIN SYNDROME

LCK, PLOD1, PLEC, TTR, FLNC, FLNA, PLOD3, FBLN5, SMAD4, PTEN, COL5A1, COL5A2, COL6A2, FLT4, TGFB1, SGCA, COL3A1, AR, TGFB3, PDGFRB, DAG1, AGT, CASK, DMD, LAMA1, NOS3, LTBP2, TNXB, COL9A3, FBN2, GFPT1, CTNNB1, AIFM1, LRP4, F2, COL6A1, FBN1, DST, ITGA3, COL6A3, CRYAB, L1CAM, COL4A1, LAMB2, SPARC, DNM2, BMP1, PIK3CA, PTPN11, F10, LAMA2, LTBP4, COL1A2, ITGA7, DNMT1, AGRN, MUSK, MYH11, CAPN3, HSPG2, COL13A1, ACVR1, STAT2, BRAF, NOTCH1, INS, TUFM, CTSD, PRSS1, PIK3R1

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, BARTTER SYNDROME, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MEND SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, IMMUNODEFICIENCY 44, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, LEBER OPTIC ATROPHY, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, MYOFIBRILLAR, 5, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, NAIL-PATELLA SYNDROME, ARTS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, GLYCOGEN STORAGE DISEASE IA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, XANTHINURIA, TYPE I, HYPOKALEMIC PERIODIC PARALYSIS 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 5, ?SPINOCEREBELLAR ATAXIA 34, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MYASTHENIC SYNDROME, CONGENITAL, 16, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, MYOPATHY, DISTAL, TATEYAMA TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, CHEDIAK-HIGASHI SYNDROME, COLE DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, 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, MYOTONIC DYSTROPHY 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), NEMALINE MYOPATHY 5, AMISH TYPE, AMYOTROPHIC LATERAL SCLEROSIS 11, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NEU-LAXOVA SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, SHPRINTZEN-GOLDBERG SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PERIODIC FEVER, FAMILIAL, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MYASTHENIC SYNDROME, CONGENITAL, 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, ?MYASTHENIC SYNDROME, CONGENITAL, 18, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, HYPOMYELINATION, GLOBAL CEREBRAL, ?IMMUNODEFICIENCY 22, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, ?GLYCOGEN STORAGE DISEASE XV, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ?SPASTIC PARAPLEGIA 63, LEUKODYSTROPHY, HYPOMYELINATING, 9, LYMPHEDEMA, HEREDITARY, ID, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), ?HYDROXYKYNURENINURIA, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, FACTOR XIIIA DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, BRODY MYOPATHY, GLYCOGEN STORAGE DISEASE IV, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PHELAN-MCDERMID SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, MULTIPLE SULFATASE DEFICIENCY, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, CAPOS SYNDROME, TRANSCOBALAMIN II DEFICIENCY, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, OSSEOUS HETEROPLASIA, PROGRESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, AL-RAQAD SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, GLYCOGEN STORAGE DISEASE IXC, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, BANNAYAN-RILEY-RUVALCABA SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, TRYPSINOGEN DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HYPERCALCEMIA, INFANTILE, CPT DEFICIENCY, HEPATIC, TYPE IA, {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, PEROXISOME BIOGENESIS DISORDER 6B, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, D-2-HYDROXYGLUTARIC ACIDURIA, MYHRE SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, 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, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, BROWN-VIALETTO-VAN LAERE SYNDROME 1, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SHORT SYNDROME, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, TRANSALDOLASE DEFICIENCY, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LEBER OPTIC ATROPHY AND DYSTONIA, VLCAD DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 7, OCULODENTODIGITAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, COENZYME Q10 DEFICIENCY, PRIMARY, 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MUSCLE GLYCOGENOSIS, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, GM2-GANGLIOSIDOSIS, AB VARIANT, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, FUMARASE DEFICIENCY, POLYGLUCOSAN BODY MYOPATHY 2, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, CHANARIN-DORFMAN SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, OSTEOGENESIS IMPERFECTA, TYPE XIII, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 8, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE X, MYOPATHY DUE TO CPT II DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, 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, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ?GLYCOGEN STORAGE DISEASE XIII, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, 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, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

FGFR1, VARS2, SLC34A1, GPT2, ACADS, GNAS, GUSB, ENPP1, COLQ, UBA1, NSDHL, DST, FH, AGK, G6PC, ARFGEF2, WNK1, ACACA, MTMR14, WWOX, FAR1, PHKB, APOA1, NDUFAF3, AR, ENO3, THRA, DAG1, ASAH1, MT-ND6, ALAD, AIFM1, CBL, KCNJ1, SUCLA2, AAAS, VEGFC, MT-CYB, ABCD4, NDUFA10, GAMT, MT-CO1, CAV3, BANF1, ALDOA, OAT, CTNNB1, PRPS1, SSR4, SCO2, SMAD4, MTHFR, CHST14, RAD51, NDUFAF2, TPM2, CTDP1, NDUFS7, PPP2R1A, TPI1, LRPPRC, HDAC8, NPHS1, COX15, KIF11, PEX13, PEX5, ECHS1, MTM1, ADK, HNRNPK, HGSNAT, PIK3R2, PTPN11, B4GALT1, DMPK, MT-CO2, PDSS1, NDUFS4, TPK1, CTCF, NDUFS8, ZMPSTE24, GRIN2B, CHAT, MLYCD, GM2A, RARS, NDUFS2, FSHB, TRIM32, KMT2A, LARS, CPT2, SPATA5, PGAM2, PGK1, MOCS2, COL1A2, GBA2, D2HGDH, COX6A1, ACY1, MCCC2, NDUFB3, MYH7, HADH, SLC25A1, NDUFB11, DES, MT-CO3, ARHGDIA, RRM2B, CAPN3, GNAI2, FIG4, VAPB, LDHA, NOTCH1, ATP2A1, GPI, CFL2, DHFR, GK, EARS2, HARS, XDH, BRAF, SNAP25, DMD, NCF1, BMP1, MT-ATP6, PHKA1, UBR1, CYP27B1, GMPPB, TAZ, SMC1A, VDR, COQ9, ITPA, HK1, PRSS1, GCLC, MT-ND3, NDUFV1, B3GAT3, ABCG5, PLCE1, TYMP, PIP5K1C, MTR, SLC52A3, CACNA1C, SCO1, HADHA, NDUFB9, DNMT1, AMPD1, PEX10, PUS1, PCNA, NDUFS6, KIF1BP, PMPCA, ATP1A3, ALDH18A1, HSPG2, NLRP3, SURF1, C10orf2, LMNA, F2, LAMA1, MED13L, ADSL, SQSTM1, HEXB, NDUFA1, AGT, CDK5, ERCC8, LIPE, PDP1, PNPLA2, PIK3CA, ABCA1, COX8A, TBK1, PRKAG2, NUBPL, ACTA1, DNM1, GBE1, NDUFAF6, COQ4, PSMB8, PGM1, NOS3, GATA2, KIF5A, ALDH6A1, GFPT1, PLOD3, NDUFAF4, ERLIN2, PNPLA8, MPC1, TNNT1, EEF1A2, DSE, ABCG8, TNFRSF1A, UQCRQ, TSHB, TALDO1, COX14, RPS6KA3, STAMBP, INS, ABCC8, PFKM, DDX3X, HSD17B10, SDHD, SLC22A5, LMX1B, CNTN1, GNA11, BCS1L, FKBP14, TUBB3, PSAP, COQ2, ATP5A1, MT-ND1, DNA2, POLD1, MTAP, MCCC1, NDUFA9, ACADSB, PTEN, F13A1, PIK3R5, STAT2, TK2, FAH, NDUFS3, PDSS2, MT-ND4, PHKG2, SDHA, MED25, PANK2, TGFB1, GATM, SUCLG1, ABCC9, CACNA1S, SLC35A3, UCHL1, TCN2, MT-ND4L, MOCS1, F10, NDUFAF5, AGPAT2, SLC25A12, TUFM, ISCU, MARS2, CAV1, PRPH, NDUFA11, DNM2, EBP, GLB1, PPARG, AGL, HIBCH, SLC35A2, BTK, COX6B1, NEU1, COQ7, COX20, AFG3L2, NDUFA12, EMD, POU1F1, MT-ND2, ABHD5, CYP2R1, KRAS, LYST, CHKB, LPIN1, RYR1, TARDBP, GYG1, MARS, MRPL44, AGRN, GYS1, ELOVL4, CRYAB, SLC4A1, AP1S1, NDUFA2, NDST1, ACADVL, CYP24A1, ADCY5, CTSD, PLIN1, QARS, TTR, FLNC, KCNJ11, GJA1, DCPS, KYNU, CASR, GCK, PYGM, FBLN5, TUBB2A, HADHB, NDUFS1, VCP, NEFL, SLC25A4, COASY, PSAT1, SIL1, MUSK, SHANK3, DDOST, GAA, LYRM4, SUMF1, LCK, GLE1, BIN1, SMS, SLC25A20, HSD17B4, CASK, EXT2, PRKACA, INSR, NDUFV2, SLC25A32, SLC16A1, CPT1A, GLA, PDGFRA, L1CAM, MT-ND5, TACO1, RET, PEX19, ACO2, AMPD2, MYH11, B4GAT1, MTRR, COX10, PIK3R1

NON-IMMUNE HYDROPS FETALIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, NONAKA MYOPATHY

DPM1, SDHD, PGM1, TGFB1, CHST14, COL1A2, B4GALT1, DAG1, PMM2, NOS3, NOTCH1, GFPT1, PIGC, AGRN, NEU1, ATP5A1, DPAGT1, RFT1, ALG2, DPM2, MPDU1, GNE, B3GAT3, HSPG2, EXT2

TRYPSINOGEN DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, BROWN-VIALETTO-VAN LAERE SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, TRANSCOBALAMIN II DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, MOLYBDENUM COFACTOR DEFICIENCY A, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ACETYL-COA CARBOXYLASE DEFICIENCY, TANGIER DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, MOLYBDENUM COFACTOR DEFICIENCY B, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, MYOPATHY, DISTAL, TATEYAMA TYPE, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, COLE DISEASE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

TUFM, CAV3, OAT, APOA1, ACACA, MTHFR, MOCS2, TCN2, MTR, ENPP1, SLC52A3, INSR, TPK1, MCCC2, DHFR, SLC25A32, CBL, COASY, MOCS1, MCCC1, ABCD4, ABCA1, PRSS1, PANK2, STAMBP, C10orf2, MTRR, NDUFS1

MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SHORT SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, COCKAYNE SYNDROME, TYPE B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 2, AMINOACYLASE 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, PORETTI-BOLTSHAUSER SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CORNELIA DE LANGE SYNDROME 5, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MYOPATHY, DISTAL, 4, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, AGAMMAGLOBULINEMIA, X-LINKED 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, COWCHOCK SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CEREBROOCULOFACIOSKELETAL SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, ?IMMUNODEFICIENCY 22, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OCULOECTODERMAL SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, ACETYL-COA CARBOXYLASE DEFICIENCY, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, WRINKLY SKIN SYNDROME, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, KOOLEN-DE VRIES SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, AMYOTROPHIC LATERAL SCLEROSIS 17, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TIMOTHY SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, VITAMIN D-DEPENDENT RICKETS, TYPE I, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, POLYGLUCOSAN BODY MYOPATHY 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, MIRROR MOVEMENTS 2, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, ?MYOFIBROMATOSIS, INFANTILE 2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, HYPERCALCEMIA, INFANTILE, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, OGDEN SYNDROME, SINGLETON-MERTEN SYNDROME 2, GLYCOGEN STORAGE DISEASE VII, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, ?GLYCOGEN STORAGE DISEASE XV, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 9, LATERAL MENINGOCELE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, GLYCOGEN STORAGE DISEASE 0, MUSCLE, CAPOS SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, TRANSCOBALAMIN II DEFICIENCY, KOSAKI OVERGROWTH SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, NONAKA MYOPATHY

SLC34A1, NEU1, F2, FGFR1, SMN2, VARS2, NCF1, NAA10, PRKACA, PABPN1, BANF1, PGK1, PIK3CA, COL3A1, AP2S1, GLB1, GUSB, AGT, PMM2, PPARG, CTNNB1, VPS37A, VMA21, HIBCH, ACY1, MCCC2, GJA1, BTK, KMT2A, NDUFS1, DPM2, ERCC6, PNPT1, DNM2, ALG2, WNK1, AFG3L2, HNRNPA1, GFPT1, PDGFRB, TBK1, GNE, GNAI2, ATP6V0A2, MUSK, NUBPL, ACTA1, SDHD, TRPV4, KRAS, HTR1A, GCLC, AR, DPAGT1, PGM1, GNAS, NOS3, THRA, MRPL44, DAG1, KIF5A, MEF2C, SQSTM1, LAMA1, COL1A2, AMER1, GYG1, ABCA1, MRE11A, AIFM1, CBL, PSMB8, HGSNAT, KCNJ1, ABCC9, AGRN, AAAS, ERLIN2, NCF2, DSE, TAF1, ERCC5, TNFRSF1A, MT-CYB, ATP6V1B2, NOTCH3, SCYL1, FGF23, AP1S2, RPS6KA3, STAMBP, VCP, CYP2R1, SLC35A3, SNAP25, PIK3R2, NDUFS3, USP8, EEF1A2, CAV3, TTR, SYT2, DDX3X, AGL, UBE2A, NRAS, C2, SMAD4, CDK5, LDHA, CHST14, CTCF, CYP27B1, RAPSN, GYS1, GMPPB, CASR, CTDP1, AP1S1, CTSD, PPP2R1A, GRIN2B, SMC1A, CYBA, TUBB3, CYBB, TPI1, VDR, ACACA, FOXC2, LRPPRC, RAD51, APOA1, ATP1A3, SLC25A4, FBN1, CHMP2B, POLD1, MCCC1, SARS2, HK1, PTEN, XRCC4, CHMP1A, DDOST, KANSL1, GAA, SUMF1, LCK, GLE1, FLNA, SDHA, FZD6, HDAC8, PIGC, HNRNPK, DPM1, B3GAT3, TGFB1, RFT1, PTPN11, CYP24A1, B4GALT1, DDX58, MTR, RARS, WAS, MT-CO2, CACNA1C, INSR, NOTCH1, PACS1, MARS, MARS2, PDGFRA, L1CAM, INS, PCNA, ATP5A1, FLNC, TCN2, TUFM, PFKM, MPDU1, ALDH18A1, HSPG2, EXT2, NDUFS2, C10orf2, MTRR, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, LEBER OPTIC ATROPHY AND DYSTONIA, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYHRE SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, LEBER OPTIC ATROPHY, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, 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, NEMALINE MYOPATHY 5, AMISH TYPE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 16

NDUFS3, SDHD, NDUFB3, NDUFAF3, NDUFAF6, SMAD4, MT-ATP6, MT-ND6, MT-ND4, NDUFA11, SDHA, NDUFS6, NDUFAF2, NDUFA1, NDUFA12, COX20, CASK, MT-CO2, SCO1, WNK1, NDUFS4, NDUFV2, NDUFB9, NDUFS1, NDUFAF4, MT-ND2, LRPPRC, NDUFB11, COX6B1, ACO2, TNNT1, MT-ND1, TACO1, ATP5A1, NDUFS8, NDUFS2, MT-CO3, MT-ND4L, NDUFA2, MT-CYB, UQCRQ, NDUFA9, NDUFAF5, COX8A, NDUFV1, MT-ND5, COX14, DDOST, SURF1, NDUFA10, INS, MT-ND3, COX6A1, NDUFS7, MT-CO1, SCO2

?GLYCOGEN STORAGE DISEASE XV, GLYCOGEN STORAGE DISEASE IV, GLYCOGEN STORAGE DISEASE X, NON-IMMUNE HYDROPS FETALIS, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, TRANSALDOLASE DEFICIENCY, MULTIPLE SULFATASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, GLYCOGEN STORAGE DISEASE II, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, POLYGLUCOSAN BODY MYOPATHY 2, GLYCOGEN STORAGE DISEASE IA, 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, LYMPHEDEMA, HEREDITARY, ID, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, MUSCLE GLYCOGENOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYHRE SYNDROME, MCARDLE DISEASE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PORETTI-BOLTSHAUSER SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, GLYCOGEN STORAGE DISEASE 0, MUSCLE, GLYCOGEN STORAGE DISEASE IXC, ARTS SYNDROME, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, AGAMMAGLOBULINEMIA, X-LINKED 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPOMYELINATION, GLOBAL CEREBRAL, GLYCOGEN STORAGE DISEASE VII, MYOPATHY, DISTAL, TATEYAMA TYPE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, ?GLYCOGEN STORAGE DISEASE XIII, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, NESTOR-GUILLERMO PROGERIA SYNDROME

PFKM, NCF1, BANF1, NEU1, CAV1, AGL, GPI, GBE1, PRPS1, CAV3, DSE, SMAD4, HEXB, PHKB, PGAM2, B3GAT3, TGFB1, PGK1, NOTCH1, B4GALT1, ALDOA, DAG1, PHKG2, CASK, LAMA1, EXT2, PYGM, PPP2R1A, INSR, NOS3, PGM1, HGSNAT, GYG1, MARS, TPI1, SDHD, FGFR1, SLC25A1, BRAF, VCP, GLB1, AGRN, GYS1, ZMPSTE24, TALDO1, LIPE, MARS2, ENO3, VEGFC, PHKA1, WWOX, AR, GUSB, PRKACA, HK1, NDST1, AAAS, SLC25A12, HSPG2, B4GAT1, BTK, GAA, CHST14, INS, G6PC, SUMF1, GCK

MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, NON-IMMUNE HYDROPS FETALIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, NONAKA MYOPATHY

DPM2, DPM1, GNE, PMM2, NEU1, PGM1, GFPT1

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, TRIFUNCTIONAL PROTEIN DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

HADHA, HADHB, ECHS1, HADH, ACADS

TRIFUNCTIONAL PROTEIN DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 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

HADH, HADHB, ECHS1, ACADVL, ACADS, HADHA

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CORPUS CALLOSUM, PARTIAL AGENESIS OF, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CAMURATI-ENGELMANN DISEASE, LOEYS-DIETZ SYNDROME 5, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?MYOSCLEROSIS, CONGENITAL, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XVII, PORETTI-BOLTSHAUSER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BETHLEM MYOPATHY 1, ?MYASTHENIC SYNDROME, CONGENITAL, 17, PIERSON SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS

COL3A1, LRP4, COL5A1, COL6A2, NOS3, LAMA2, TGFB1, COL1A2, TGFB3, DAG1, AGT, LAMA1, COL4A1, COL5A2, COL9A3, COL6A1, AGRN, SPARC, L1CAM, LAMB2, ITGA7, TNXB, COL6A3, INS, MUSK

SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, BETHLEM MYOPATHY 1, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, MULTIPLE SULFATASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA IIB, TIMOTHY SYNDROME, HYPOKALEMIC PERIODIC PARALYSIS 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ?MYOSCLEROSIS, CONGENITAL, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, BANNAYAN-RILEY-RUVALCABA SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

COL3A1, COL6A2, RET, MAG, COL6A1, AGRN, COL5A1, CACNA1C, COL4A1, CACNA1S, COL1A2, COL9A3, COL6A3, SUMF1, PTEN, COL5A2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, GLYCOGEN STORAGE DISEASE XI, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, PITUITARY ADENOMA, ACTH-SECRETING, GABA-TRANSAMINASE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BARTTER SYNDROME, TYPE 2, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ESCOBAR SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, DUCHENNE MUSCULAR DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, BECKER MUSCULAR DYSTROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CLOVE SYNDROME, SOMATIC, ZIMMERMANN-LABAND SYNDROME 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, EPISODIC ATAXIA/MYOKYMIA SYNDROME, EPISODIC ATAXIA, TYPE 6, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOKALEMIC PERIODIC PARALYSIS 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, OCULODENTODIGITAL DYSPLASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MIRROR MOVEMENTS 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, DISTAL, 4, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, TIMOTHY SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, KEPPEN-LUBINSKY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, MENTAL RETARDATION, X-LINKED 19, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

PEX5, NCF1, AR, DLG3, CHRNE, KCNJ6, CTNNB1, CAV3, CHRND, CHRNG, KCNJ5, LDHA, FLNC, SQSTM1, TGFB1, PIK3CA, PPP2R1A, AP2S1, KCNJ11, CASR, AGT, CASK, DMD, PPARG, PRKACA, CACNA1C, CHRNA1, FLNA, GJA1, KIF5C, CBL, BRAF, KCNJ1, KCNA1, ABCC9, KLC2, NEFL, CACNA1S, GNAS, SUCLA2, GRIN2B, CHAT, SNAP25, DCC, ITGA7, DAG1, MUSK, SLC1A3, KCNH1, RPS6KA3, ADCY5, MT-CO1, GNAI2, INS, ABCC8, GJB1, KRIT1, KIF1A, ABAT, PIK3R1

INFANTILE MYOFIBROMATOSIS 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, KOSAKI OVERGROWTH SYNDROME, SHORT SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DUCHENNE MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, COWCHOCK SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BETHLEM MYOPATHY 1, PIERSON SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

AIFM1, COL1A2, TTR, PDGFRB, DAG1, AGRN, PIK3R1, DMD, LAMA1, COL4A1, HSPG2, LAMB2, COL5A2, COL6A1, COL3A1, LAMA2, COL5A1, TGFB1, CASK, PTPN11

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, INFANTILE CEREBELLAR-RETINAL DEGENERATION, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, LEBER OPTIC ATROPHY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, MYASTHENIC SYNDROME, CONGENITAL, 16, LEBER OPTIC ATROPHY AND DYSTONIA, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, 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, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

NDUFS3, SDHD, NDUFB3, NDUFAF3, NDUFAF6, NDUFA12, MT-ND6, MT-ND4, NDUFA11, SDHA, NDUFAF2, NDUFA9, NDUFA1, COX20, TPM3, MT-CO2, SCO1, NDUFS4, NDUFV2, NDUFB9, NDUFS1, NDUFAF4, MT-ND2, LRPPRC, COX6B1, ACO2, NDUFS6, MT-ND1, TACO1, SCO2, NDUFS8, NDUFS2, MT-CO3, MT-ND4L, NDUFA2, MT-CYB, UQCRQ, NDUFV1, NDUFAF5, COX8A, MT-ND5, COX14, NDUFB11, SURF1, NDUFA10, MT-ND3, COX6A1, NDUFS7, MT-CO1

TRYPSINOGEN DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, BROWN-VIALETTO-VAN LAERE SYNDROME 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, TRANSCOBALAMIN II DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, MOLYBDENUM COFACTOR DEFICIENCY A, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ACETYL-COA CARBOXYLASE DEFICIENCY, TANGIER DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, MOLYBDENUM COFACTOR DEFICIENCY B, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, MYOPATHY, DISTAL, TATEYAMA TYPE, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, COLE DISEASE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

TUFM, CAV3, OAT, APOA1, ACACA, MTHFR, MOCS2, TCN2, MTR, ENPP1, SLC52A3, INSR, TPK1, MCCC2, DHFR, SLC25A32, CBL, COASY, MOCS1, MCCC1, ABCD4, ABCA1, PRSS1, PANK2, STAMBP, C10orf2, MTRR, NDUFS1

CAMURATI-ENGELMANN DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, MULTIPLE SULFATASE DEFICIENCY, COCKAYNE SYNDROME, TYPE A, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, SHORT SYNDROME, MEDNIK 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, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, HYPERCALCEMIA, INFANTILE, AMINOACYLASE 1 DEFICIENCY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, COENZYME Q10 DEFICIENCY, PRIMARY, 7, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SHPRINTZEN-GOLDBERG SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MEND SYNDROME, VLCAD DEFICIENCY, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, COENZYME Q10 DEFICIENCY, PRIMARY, 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MUSCULAR DYSTROPHY, CONGENITAL, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, ?IMMUNODEFICIENCY 22, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, CK SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, IMMUNODEFICIENCY 44, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, MYASTHENIC SYNDROME, CONGENITAL, 5, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MALOUF SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, ACETYL-COA CARBOXYLASE DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, AL-RAQAD SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, NEPHROTIC SYNDROME, TYPE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, CHANARIN-DORFMAN SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLYCEROL KINASE DEFICIENCY, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OSTEOGENESIS IMPERFECTA, TYPE XIII, TANGIER DISEASE, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MYOTUBULAR MYOPATHY, X-LINKED, CORNELIA DE LANGE SYNDROME 5, ?SPINOCEREBELLAR ATAXIA 34, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GLYCOGEN STORAGE DISEASE VII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, COENZYME Q10 DEFICIENCY, PRIMARY, 1, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 8, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MALONYL-COA DECARBOXYLASE DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, PEROXISOME BIOGENESIS DISORDER 11B, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, MYOPATHY DUE TO CPT II DEFICIENCY, MYOPATHY, DISTAL, 4, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MCARDLE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, COENZYME Q10 DEFICIENCY, PRIMARY, 3, LEUKODYSTROPHY, HYPOMYELINATING, 9, GM2-GANGLIOSIDOSIS, AB VARIANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MARINESCO-SJOGREN SYNDROME, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, AMYOTROPHIC LATERAL SCLEROSIS 11, EHLERS-DANLOS SYNDROME, TYPE VI, GM1-GANGLIOSIDOSIS, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, ATAXIA-OCULOMOTOR APRAXIA 3, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CPT II DEFICIENCY, LETHAL NEONATAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

LMNA, MLYCD, CAV1, GPI, KMT2A, NCF1, MED13L, CPT2, ACADS, PRKACA, PGK1, COQ7, HEXB, EBP, ALDOA, AGT, PPARG, CDK5, COLQ, NSDHL, GJA1, MYH7, HADH, SLC25A1, PNPLA2, MARS2, DES, PIK3CA, NOTCH1, ACY1, HARS, ABCA1, MTMR14, PRKAG2, ASAH1, GNAI2, ABHD5, CTNNB1, PTEN, CYP2R1, ACTA1, VAPB, KRAS, APOA1, CBL, COQ4, AR, PGM1, SQSTM1, NOS3, THRA, DAG1, FSHB, LPIN1, FGFR1, TARDBP, CFL2, DDOST, GFPT1, PLOD1, GK, PLOD3, KCNJ1, GBA2, PNPLA8, ELOVL4, EEF1A2, ABCG8, AP1S1, TNFRSF1A, CASR, TSHB, ACADVL, CYP24A1, STAMBP, FIG4, INS, SLC35A2, NDUFS3, PLIN1, TUFM, CAV3, TTR, PFKM, GLB1, BMP1, DCPS, SMAD4, CHAT, CYP27B1, GMPPB, TAZ, CTSD, PYGM, PPP2R1A, HADHB, VDR, ACACA, VCP, PDSS2, COQ9, NPHS1, NEFL, PEX19, FAR1, ERCC8, PEX13, SIL1, PEX5, ECHS1, NUBPL, PIK3R5, NEU1, STAT2, MTM1, SUMF1, FAH, LCK, SSR4, PSAP, HDAC8, COQ2, HNRNPK, HSD17B4, PIK3R2, ABCG5, PTPN11, PIP5K1C, TGFB1, RARS, MT-CO2, PDSS1, HADHA, MED25, NDUFS4, LIPE, DNMT1, SLC25A32, C10orf2, CPT1A, GLA, PCNA, FLNC, CTCF, DHFR, ACO2, AGPAT2, SLC25A20, HSPG2, CHKB, NDUFS2, GM2A, KIF1BP, CASK, PIK3R1

?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, DUCHENNE MUSCULAR DYSTROPHY, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, ?MYOPATHY, SCAPULOHUMEROPERONEAL, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 1, BECKER MUSCULAR DYSTROPHY, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, NEMALINE MYOPATHY 5, AMISH TYPE, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ARTHROGRYPOSIS, DISTAL, TYPE 2A, NON-IMMUNE HYDROPS FETALIS

ACTA1, TPM2, TTN, TPM3, TCAP, MYH3, MYH8, MYBPC1, NEB, TNNT1, DES, DMD

?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, 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, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MYHRE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8

YARS2, RARS2, IARS2, EARS2, SARS2, CARS2, FARS2, AARS2, VARS2, DARS2, SMAD4, MARS2, NARS2, TARS2, QARS

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, LEUKODYSTROPHY, HYPOMYELINATING, 9, ?INFANTILE LIVER FAILURE SYNDROME 1, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, MYHRE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, 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, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, LEUKODYSTROPHY, HYPOMYELINATING, 3, PONTOCEREBELLAR HYPOPLASIA, TYPE 6

LARS, YARS2, AARS, RARS2, IARS2, EARS2, CARS2, SARS2, RARS, FARS2, AARS2, VARS2, DARS2, SMAD4, AIMP1, MARS2, NARS2, TARS2, QARS, MARS, HARS

?GLYCOGEN STORAGE DISEASE XV, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, TANGIER DISEASE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, CREATINE PHOSPHOKINASE, ELEVATED SERUM, RIPPLING MUSCLE DISEASE, POLYGLUCOSAN BODY MYOPATHY 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, TRANSCOBALAMIN II DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), GM1-GANGLIOSIDOSIS, TYPE III, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, AMINOACYLASE 1 DEFICIENCY, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LEBER OPTIC ATROPHY, ACETYL-COA CARBOXYLASE DEFICIENCY, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, GLYCOGEN STORAGE DISEASE 0, MUSCLE, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, VITAMIN D-DEPENDENT RICKETS, TYPE I, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

TUFM, CAV3, GLB1, APOA1, ACACA, SMAD4, CYP27B1, GYS1, MTR, MT-CO2, HIBCH, GYG1, MCCC2, VDR, CBL, HGSNAT, MCCC1, INS, NEU1, TCN2, ACY1, MT-CYB, CASR, GCLC, CYP24A1, STAMBP, C10orf2, SLC35A3, MTRR, GUSB, NDUFS3, CYP2R1

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, GLYCOGEN STORAGE DISEASE XII, GLYCOGEN STORAGE DISEASE VII, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLYCOGEN STORAGE DISEASE X, ?GLYCOGEN STORAGE DISEASE XIII, MYHRE SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY

PGAM2, ALDOA, HK1, GCK, GPI, PPP2R1A, SMAD4, PFKM, INS, ENO3, PGK1, TPI1

?GLYCOGEN STORAGE DISEASE XV, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE IXC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MUSCLE GLYCOGENOSIS, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, MCARDLE DISEASE, POLYGLUCOSAN BODY MYOPATHY 2, GLYCOGEN STORAGE DISEASE II, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE

PHKB, GYG1, AGL, NCF1, PYGM, GAA, PGM1, PHKG2, PHKA1