MUSCLE AND SOFT TISSUES

PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, BECKER MUSCULAR DYSTROPHY, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, LYMPHEDEMA, HEREDITARY, IA, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, NEMALINE MYOPATHY 5, AMISH TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, DISTAL, TATEYAMA TYPE, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, MANDIBULOACRAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MALOUF SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MICROHYDRANENCEPHALY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, IVIC SYNDROME, CHOREOACANTHOCYTOSIS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, KEPPEN-LUBINSKY SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, MYASTHENIC SYNDROME, CONGENITAL, 5, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, LIANG DISTAL MYOPATHY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PHELAN-MCDERMID SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, MUSCULAR DYSTROPHY, CONGENITAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOKALEMIC PERIODIC PARALYSIS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, TANGIER DISEASE, MYOPATHY, MYOFIBRILLAR, 4, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GLYCOGEN STORAGE DISEASE VII, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 16, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, LEUKODYSTROPHY, HYPOMYELINATING, 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MARFAN LIPODYSTROPHY SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, AU-KLINE SYNDROME, 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, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

LMNA, CAV1, PLOD3, LRP4, GNAS, AGT, PPARG, CDK5, COLQ, UBA1, GJA1, BTK, MYH7, FBN1, SALL4, DNM2, DOK7, DES, PIK3CA, WNK1, HSD17B10, CAPN3, GRID2, GTPBP3, GNAI2, LDB3, DNM1, SCN4A, TRPV4, KRAS, APOA1, AR, ALS2, CHAMP1, ATP2A1, DAG1, LPIN1, GATA2, KIF5A, SQSTM1, CFL2, ABCA1, MRE11A, KIF5C, MAFB, KCNJ1, AGRN, LRSAM1, DNM1L, TNNT1, EEF1A2, TNFRSF1A, PCNA, RPS6KA3, WAS, SNAP25, CAV3, PFKM, DDX3X, KCNJ6, CTNNB1, VRK1, DYSF, TTC19, FLT4, PEX19, MECP2, RAPSN, DLG3, CASR, CNTN1, DMD, PPP2R1A, NDE1, TUBB3, FBLN5, LRPPRC, DIAPH1, NPHS1, ATP1A3, DCTN1, VPS13A, KIF11, PTEN, ECHS1, MUSK, SHANK3, DYNC1H1, FLNA, BIN1, AIMP1, HNRNPK, MTRR, TGFB1, PTPN11, ANK3, CASK, PRKACA, TCF4, NOS3, DNMT1, SCN11A, PUS1, NLRP5, NEFL, GRIN2B, CTCF, KIF1BP, F10, PEX16, MYH11, HSPG2, SKI, SYNE2, PIK3R1

SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ANGIOEDEMA, HEREDITARY, TYPE III, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, DISTAL, 4, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PORETTI-BOLTSHAUSER SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MYOPATHY, TUBULAR AGGREGATE, 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, STORMORKEN SYNDROME, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, GLYCOGEN STORAGE DISEASE XII, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, PITUITARY DEPENDENT HYPERCORTISOLISM, NEPHROTIC SYNDROME, TYPE 8, FRONTOMETAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 44, FANCONI RENOTUBULAR SYNDROME 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, MYOFIBRILLAR, 1, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, FACTOR VII DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, EMBERGER SYNDROME, LOEYS-DIETZ SYNDROME 5, LYMPHEDEMA, HEREDITARY, IA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, NEPHROTIC SYNDROME, TYPE 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, LIANG DISTAL MYOPATHY, ANGIOEDEMA, HEREDITARY, TYPES I AND II, CLOVE SYNDROME, SOMATIC, BETHLEM MYOPATHY 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LEUKODYSTROPHY, HYPOMYELINATING, 12, IMMUNODEFICIENCY 10, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, MYOPATHY, TUBULAR AGGREGATE, 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ADAMS-OLIVER SYNDROME 2, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, SINGLETON-MERTEN SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INFANTILE MYOFIBROMATOSIS 1, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LYMPHEDEMA, HEREDITARY, ID, MYHRE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MENTAL RETARDATION, X-LINKED 90, PSEUDOHYPOALDOSTERONISM, TYPE 2, FACTOR XIIIA DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ATAXIA-OCULOMOTOR APRAXIA 3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CHEDIAK-HIGASHI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, DANON DISEASE, AU-KLINE SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 10, IMMUNODEFICIENCY 9, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

SLC34A1, TRIM32, CAV1, GPI, SOD1, ATP2B3, PRKACA, F7, STIM1, GNAS, COL1A2, F2, MAG, AGT, PPARG, CDK5, CTNNB1, MYH7, FMR1, ITGA3, BAG3, DNM2, DES, PIK3CA, NOTCH1, PRF1, ARHGDIA, SERPING1, TBK1, GNAI2, MUSK, ACTA1, DNM1, F13A1, KRAS, APOA1, CBL, CAPN3, AR, LYST, CUL3, NOS3, ATP2A1, GATA2, FGFR1, LAMA1, ABCA1, KIF5C, DOCK6, ORAI1, SPARC, VEGFC, SLC7A7, BIN1, RPS6KA3, WAS, BRAF, INS, ABCC8, DMD, CAV3, TTR, RET, ALDOA, GJA1, SMAD4, FLT4, F12, MECP2, KLC2, TGFB3, FLNA, CASR, CTSD, GNA11, COL4A1, PPP2R1A, GRIN2B, VPS11, TUBB3, FBLN5, AIP, DDX58, HTR1A, NPHS1, ATP1A3, DCTN1, KIF11, TTN, PTEN, LAMP2, PIK3R5, STAT2, LCK, NRAS, DLG3, PSAP, HNRNPK, CD59, PIK3R2, TGFB1, ENTPD1, ACVR1, MT-CO2, INSR, PTPN11, COL6A1, PDGFRB, SLC16A1, L1CAM, PCNA, KIF5A, FLNC, CTCF, F10, MYH11, HSPG2, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, CAMURATI-ENGELMANN DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, LYMPHEDEMA, HEREDITARY, IA, MULTIPLE ENDOCRINE NEOPLASIA IIB, 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, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AMYOTROPHIC LATERAL SCLEROSIS 11, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MANDIBULOACRAL DYSPLASIA, PITUITARY ADENOMA, ACTH-SECRETING, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, HEMOCHROMATOSIS, TYPE 2A, CORPUS CALLOSUM, PARTIAL AGENESIS OF, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?IMMUNODEFICIENCY 22, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 44, COWCHOCK SYNDROME, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OSSEOUS HETEROPLASIA, PROGRESSIVE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MALOUF SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, TROYER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, FUMARASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRAGILE X TREMOR/ATAXIA SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOKALEMIC PERIODIC PARALYSIS 1, BECKER MUSCULAR DYSTROPHY, MIRROR MOVEMENTS 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, WIEDEMANN-STEINER SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYASTHENIC SYNDROME, CONGENITAL, 16, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, NAIL-PATELLA SYNDROME, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYHRE SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HEART-HAND SYNDROME, SLOVENIAN TYPE, MARFAN LIPODYSTROPHY SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, NEPHROTIC SYNDROME, TYPE 6, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME

LMNA, CAV1, LRP4, SQSTM1, F2, MAG, AGT, PPARG, CDK5, ASCC1, UBA1, FMR1, ITGA3, FH, DNM2, PIK3CA, SCN8A, ARHGDIA, MYH3, GRID2, EMD, GNAI2, PTEN, FIG4, ACTA1, AIFM1, DNM1, SCN4A, KRAS, HTR1A, CDKL5, AR, GNAS, NOS3, THRA, FGFR1, MEF2C, CFL2, SPG20, CBL, AGRN, RPS6KA3, ACVR1, BRAF, SNAP25, TTR, GRIN2B, GJA1, SMAD4, FLT4, MECP2, LMX1B, DLG3, CASR, CNTN1, DMD, PQBP1, COL4A1, SMC1A, TUBB3, SCN11A, FOXC2, NPHS1, FBN1, KIF11, PTPRO, MUSK, TRPV4, SHANK3, STAT2, LCK, FLNA, CHRNE, HNRNPK, TGFB1, PTPN11, ANK3, CASK, WAS, PRKACA, NOTCH1, DNMT1, L1CAM, PCNA, NEFL, RET, DCC, MYH11, PIK3R1, HFE2

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MYOTUBULAR MYOPATHY, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, INFANTILE MYOFIBROMATOSIS 1, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, 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, ID, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, MENTAL RETARDATION, X-LINKED 102, MYOPATHY, CENTRONUCLEAR, 3, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, IVIC SYNDROME, MYHRE SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, OSSEOUS HETEROPLASIA, PROGRESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYOPATHY, MYOFIBRILLAR, 1, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, ?MYASTHENIC SYNDROME, CONGENITAL, 17, MENTAL RETARDATION, X-LINKED 99, DUANE-RADIAL RAY SYNDROME, PIERSON SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FRAGILE X TREMOR/ATAXIA SYNDROME, ?GLYCOGEN STORAGE DISEASE XIII, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

ACTA1, LCK, VRK1, TTR, AR, DDX3X, CHRNE, PPARG, CTNNB1, CDK5, HNRNPK, SMAD4, TPI1, SLC9A6, DLG3, GNAS, TGFB1, ENO3, NOTCH1, FLNA, THRA, CAV1, MYF6, AGT, GNA11, USP9X, CHRNA1, NOS3, UBA1, TUBB3, GJA1, GATM, VDR, LRP4, FMR1, SALL4, PCNA, LAMB2, DNM2, DES, VEGFC, PTEN, HACE1, COL1A2, ITGA7, DAG1, TSHB, MUSK, MYH11, PSAP, HSPG2, WAS, MRE11A, CHRND, INS, PDGFRB

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT 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, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPERCALCEMIA, INFANTILE, MIYOSHI MUSCULAR DYSTROPHY 1, MYOPATHY, DISTAL, 4, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PITT-HOPKINS SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, C2 DEFICIENCY, IMMUNODEFICIENCY 44, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, NEPHROTIC SYNDROME, TYPE 8, ACETYL-COA CARBOXYLASE DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, MYOFIBRILLAR, 5, EMBERGER SYNDROME, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, WELANDER DISTAL MYOPATHY, FUMARASE DEFICIENCY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OCULOECTODERMAL SYNDROME, GLYCOGEN STORAGE DISEASE II, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WIEDEMANN-STEINER SYNDROME, TANGIER DISEASE, BECKER MUSCULAR DYSTROPHY, GLYCOGEN STORAGE DISEASE VII, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, INFANTILE MYOFIBROMATOSIS 1, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, 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, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

ACTA1, NCF1, TTR, PFKM, CAV1, CHRNE, SMN2, APOA1, CAV3, DYSF, AR, FLNC, CUL4B, SGCA, TGFB1, CUL3, NOS3, THRA, ALDOA, PTRF, CYBA, TIA1, AGT, RYR1, DMD, CHRNA1, COL5A1, CASK, PPP2R1A, GRIN2B, TCF4, UBA1, SMC1A, TUBB3, CTNNB1, MRE11A, KCNJ1, CYBB, ACACA, GAA, C2, NPHS1, FH, GNAS, DNA2, GATA2, POLD1, SSR4, SOD1, ITGA7, CASR, KRAS, ARHGDIA, PDGFRB, ECHS1, PCNA, CAPN3, CFL2, CYP24A1, STAT2, GNAI2, INS, PTEN, PIK3R1, DAG1

CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, AMINOACYLASE 1 DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, MIYOSHI MUSCULAR DYSTROPHY 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, NEMALINE MYOPATHY 5, AMISH TYPE, FRONTOMETAPHYSEAL DYSPLASIA, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PITT-HOPKINS SYNDROME, COWCHOCK SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, MENTAL RETARDATION, X-LINKED 12/35, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, 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, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, C2 DEFICIENCY, SPINOCEREBELLAR ATAXIA 36, CHOANAL ATRESIA AND LYMPHEDEMA, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, EMBERGER SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, FUMARASE DEFICIENCY, TIMOTHY SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, NEPHROTIC SYNDROME, TYPE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, WARBURG MICRO SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, OSSEOUS HETEROPLASIA, PROGRESSIVE, BECKER MUSCULAR DYSTROPHY, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 5, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, INFANTILE MYOFIBROMATOSIS 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, MYHRE SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, FACTOR XIIIA DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

CAV1, SMN2, NCF1, NOP56, PRPH, PRKACA, GNAS, F2, KRIT1, AGT, PPARG, INSR, CDK5, ASCC1, UBA1, ACY1, CTNNB1, BTK, PTPN14, FH, TRIM32, DES, PIK3CA, EMD, PDGFRB, SMAD4, TBK1, WWOX, ACTA1, VRK1, KRAS, HTR1A, CAPN3, AR, SQSTM1, NOS3, THRA, MRPL44, GATA2, FGFR1, MEF2C, AIFM1, GNAI2, C2, CD27, TNNT1, AAAS, DNM1L, EEF1A2, TNFRSF1A, TMEM173, REEP1, WAS, INS, SNAP25, CAV3, PFKM, GJA1, DYSF, MYH3, RAPSN, TRDN, TGFB3, NEFH, CASR, TBC1D20, DMD, PPP2R1A, GRIN2B, TUBB3, VDR, HSD17B10, DDX58, DIAPH1, NPHS1, ATP5A1, DCTN1, PTEN, F13A1, NLRP12, GJB1, CASQ1, LCK, THOC2, FLNA, HNRNPK, PIK3R2, TGFB1, PTPN11, ANK3, MT-CO2, CACNA1C, TCF4, NOTCH1, RBCK1, DNMT1, PACS1, ATP2A1, CRYAB, PCNA, NEFL, UCHL1, GRM1, DCC, TCAP, MYH11, NLRP3, SKI, REEP2, RYR1, PIK3R1

SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ANGIOEDEMA, HEREDITARY, TYPE III, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, DISTAL, 4, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PORETTI-BOLTSHAUSER SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MYOPATHY, TUBULAR AGGREGATE, 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, STORMORKEN SYNDROME, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, GLYCOGEN STORAGE DISEASE XII, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, PITUITARY DEPENDENT HYPERCORTISOLISM, NEPHROTIC SYNDROME, TYPE 8, FRONTOMETAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 44, FANCONI RENOTUBULAR SYNDROME 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, MYOFIBRILLAR, 1, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, FACTOR VII DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EMBERGER SYNDROME, LOEYS-DIETZ SYNDROME 5, LYMPHEDEMA, HEREDITARY, IA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, NEPHROTIC SYNDROME, TYPE 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, LIANG DISTAL MYOPATHY, ANGIOEDEMA, HEREDITARY, TYPES I AND II, CLOVE SYNDROME, SOMATIC, BETHLEM MYOPATHY 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LEUKODYSTROPHY, HYPOMYELINATING, 12, IMMUNODEFICIENCY 10, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, MYOPATHY, TUBULAR AGGREGATE, 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ADAMS-OLIVER SYNDROME 2, FRAGILE X TREMOR/ATAXIA SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, SINGLETON-MERTEN SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INFANTILE MYOFIBROMATOSIS 1, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LYMPHEDEMA, HEREDITARY, ID, MYHRE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MENTAL RETARDATION, X-LINKED 90, PSEUDOHYPOALDOSTERONISM, TYPE 2, FACTOR XIIIA DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ATAXIA-OCULOMOTOR APRAXIA 3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CHEDIAK-HIGASHI SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, DANON DISEASE, AU-KLINE SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 10, IMMUNODEFICIENCY 9, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

SLC34A1, TRIM32, CAV1, FGFR1, SOD1, ATP2B3, PRKACA, F7, STIM1, GNAS, COL1A2, F2, MAG, AGT, PPARG, CDK5, CTNNB1, MYH7, FMR1, ITGA3, BAG3, DNM2, DES, PIK3CA, NOTCH1, PRF1, ARHGDIA, SERPING1, TBK1, GNAI2, MUSK, ACTA1, DNM1, F13A1, KRAS, APOA1, CBL, CAPN3, AR, LYST, CUL3, NOS3, ATP2A1, GATA2, KIF5A, LAMA1, ABCA1, KIF5C, DOCK6, ORAI1, SPARC, VEGFC, SLC7A7, BIN1, RPS6KA3, WAS, BRAF, INS, ABCC8, DMD, CAV3, TTR, RET, ALDOA, GJA1, SMAD4, FLT4, F12, MECP2, KLC2, TGFB3, FLNA, CASR, CTSD, GNA11, COL4A1, PPP2R1A, GRIN2B, VPS11, TUBB3, FBLN5, AIP, DDX58, HTR1A, NPHS1, ATP1A3, DCTN1, KIF11, TTN, PTEN, LAMP2, PIK3R5, STAT2, LCK, NRAS, DLG3, PSAP, HNRNPK, CD59, PIK3R2, TGFB1, ENTPD1, ACVR1, MT-CO2, INSR, PTPN11, COL6A1, PDGFRB, SLC16A1, L1CAM, PCNA, FLNC, CTCF, F10, MYH11, HSPG2, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, LYSYL HYDROXYLASE 3 DEFICIENCY, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, SHORT 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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MACHADO-JOSEPH DISEASE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, NAIL-PATELLA SYNDROME, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, AGAMMAGLOBULINEMIA, X-LINKED 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AMYOTROPHIC LATERAL SCLEROSIS 11, IMMUNODEFICIENCY 44, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, MANDIBULOACRAL DYSPLASIA, PIERSON SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, NATIVE AMERICAN MYOPATHY, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, SPINOCEREBELLAR ATAXIA 36, NEPHROTIC SYNDROME, TYPE 8, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, CENTRONUCLEAR MYOPATHY 5, MUCKLE-WELLS SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 2, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, LEBER OPTIC ATROPHY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), FACTOR X DEFICIENCY, ACETYL-COA CARBOXYLASE DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, IVIC SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, EMBERGER SYNDROME, PERRAULT SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, PSEUDOHYPOALDOSTERONISM, TYPE 2, TYROSINEMIA, TYPE I, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MIRROR MOVEMENTS 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, NEPHROTIC SYNDROME, TYPE 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, NON-IMMUNE HYDROPS FETALIS, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, WIEDEMANN-STEINER SYNDROME, NEPHROTIC SYNDROME, TYPE 2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, MUSCULAR DYSTROPHY, CONGENITAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OSTEOGENESIS IMPERFECTA, TYPE XIII, HYPOKALEMIC PERIODIC PARALYSIS 1, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, BECKER MUSCULAR DYSTROPHY, ?MYOFIBROMATOSIS, INFANTILE 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GLYCOGEN STORAGE DISEASE VII, MALOUF SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, INFANTILE MYOFIBROMATOSIS 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MYOPATHY, DISTAL, 4, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MCKUSICK-KAUFMAN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKODYSTROPHY, HYPOMYELINATING, 9, LATERAL MENINGOCELE SYNDROME, LYMPHEDEMA, HEREDITARY, ID, LEPRECHAUNISM, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, CHEDIAK-HIGASHI SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

SLC34A1, CAV1, FGFR1, SMN2, FSHB, NOP56, NPHS2, CUL3, COL1A2, GBA2, KRIT1, AGT, PPARG, INSR, CDK5, UBA1, ERCC8, BMP1, BTK, RARS, KMT2A, MYO1E, SALL4, SGCB, PNPLA2, LAMB2, DES, PIK3CA, WNK1, AFG3L2, ARHGDIA, MYH3, TBK1, GRID2, POU1F1, GNAI2, CTNNB1, BVES, FIG4, ACTA1, ACVR1, KRAS, APOA1, CBL, KIF21A, LYST, GNAS, NOS3, THRA, DAG1, RYR1, KIF5A, MEF2C, SQSTM1, HEXB, CFL2, MEGF10, PLOD3, AARS2, LMNA, MYOM1, SPEG, PFKM, TAF1, STAC3, CACNA1S, MT-CYB, UQCRQ, NOTCH3, FGF23, RPS6KA3, WAS, INS, CAV3, TTR, UCHL1, DDX3X, GJA1, SMAD4, SGCA, MKKS, VEGFC, LMX1B, GYS1, CASR, DMD, PQBP1, PPP2R1A, GRIN2B, CHRNA1, SMC1A, TUBB3, PLEC, VDR, ACACA, FOXC2, LRPPRC, RAD51, HTR1A, NPHS1, SOX18, ITGA7, KIF11, TTN, TPM3, PEX5, TRPV4, MUSK, STAT2, FAH, LCK, CUL4B, AR, FLNA, CHRNE, BIN1, HNRNPK, HSD17B4, TGFB1, NONO, PTPN11, PANK2, MFSD2A, VCP, FMN2, CASK, NEB, PRKACA, CHRNB1, CACNA1C, TCF4, NOTCH1, DNMT1, SGCG, ATP2A1, PDGFRA, B4GALT1, L1CAM, PCNA, NEFL, FLNC, CTCF, PTEN, F10, HACE1, ATXN3, TCAP, MYH11, HSPG2, NLRP3, SKI, MTRR, GATA2, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, GLYCOGEN STORAGE DISEASE IV, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT 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, MULTIPLE ENDOCRINE NEOPLASIA IIB, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AMYOTROPHIC LATERAL SCLEROSIS 11, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, PITT-HOPKINS SYNDROME, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), 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, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAPOS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, PHELAN-MCDERMID SYNDROME, NEPHROTIC SYNDROME, TYPE 8, ACETYL-COA CARBOXYLASE DEFICIENCY, FRONTOMETAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 44, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {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, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHOREOACANTHOCYTOSIS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, EMBERGER SYNDROME, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, LAMB-SHAFFER SYNDROME, GLYCOGEN STORAGE DISEASE II, GM2-GANGLIOSIDOSIS, AB VARIANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DUCHENNE MUSCULAR DYSTROPHY, ARTHROGRYPOSIS, DISTAL, TYPE 2A, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, HELSMOORTEL-VAN DER AA SYNDROME, FRAGILE X TREMOR/ATAXIA SYNDROME, CLOVE SYNDROME, SOMATIC, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, EPISODIC ATAXIA, TYPE 6, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOKALEMIC PERIODIC PARALYSIS 1, TANGIER DISEASE, MYOPATHY, MYOFIBRILLAR, 4, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, WIEDEMANN-STEINER SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NAIL-PATELLA SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PEROXISOME BIOGENESIS DISORDER 11B, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, GABA-TRANSAMINASE DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MCKUSICK-KAUFMAN SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CEROID LIPOFUSCINOSIS, NEURONAL, 3, MYOPATHY, MYOFIBRILLAR, 2, LEPRECHAUNISM, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYHRE SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MENTAL RETARDATION, X-LINKED 90, INFANTILE CEREBELLAR-RETINAL DEGENERATION, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEPHROTIC SYNDROME, TYPE 6, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AU-KLINE SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 10, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

SOD1, F2, SQSTM1, GPI, CLN3, NCF1, PRKACA, CUL3, HEXB, AP2S1, KRIT1, AGT, PPARG, INSR, CDK5, SCN8A, MYH14, KMT2A, FMR1, ITGA3, DNM2, PIK3CA, WNK1, ARHGDIA, SMAD4, GNAI2, CTNNB1, LDB3, FIG4, ACTA1, DNM1, KRAS, APOA1, AR, PGK1, NOS3, ATP2A1, DAG1, GATA2, FGFR1, MEF2C, GATAD2B, ABAT, ABCA1, CPT1A, MYO18B, KIF5C, CBL, SOX5, TNNT1, AAAS, CRYAB, MKKS, CACNA1S, SLC1A3, PCNA, RPS6KA3, WAS, ADCY5, BRAF, INS, SNAP25, DMD, CAV3, TTR, UCHL1, ALDOA, GJA1, SSR4, TTC19, ALS2, CHAT, MECP2, LMX1B, RAPSN, KLC2, FLNA, CASR, CTSD, PPP2R1A, GRIN2B, CHRNA1, SMC1A, TUBB3, GBE1, VDR, ACACA, FOXP1, RBM8A, MYH2, ATP1A3, PEX19, DCTN1, VPS13A, KIF11, PTPRO, CTNS, PEX13, TPM3, PEX5, TRPV4, MUSK, SHANK3, STAT2, GAA, GJB1, NRAS, DLG3, CHRNE, BIN1, HNRNPK, HTR1A, MYH3, TGFB1, PIK3R2, PTPN11, CHRNB1, CASK, MT-CO2, CACNA1C, TCF4, NOTCH1, SCN9A, ABHD12, DNMT1, GM2A, SGCG, THRA, PDGFRA, L1CAM, GNAS, KIF5A, RET, GRM1, PTEN, POMK, ACO2, ADNP, TCAP, MBD5, NEB, C10orf2, TUFM, RYR1, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, NAIL-PATELLA SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, 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, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PITUITARY ADENOMA, ACTH-SECRETING, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, GM2-GANGLIOSIDOSIS, AB VARIANT, OCULOECTODERMAL SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSSEOUS HETEROPLASIA, PROGRESSIVE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, PHELAN-MCDERMID SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MYHRE SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, FRAGILE X TREMOR/ATAXIA SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEPHROTIC SYNDROME, TYPE 8, MYOPATHY, MYOFIBRILLAR, 2, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, CEROID LIPOFUSCINOSIS, NEURONAL, 3, CAPOS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, IMMUNODEFICIENCY 44, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, PITT-HOPKINS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, MENTAL RETARDATION, X-LINKED 19, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

DNM1, TTR, UCHL1, DLG3, CHRNE, GPI, BIN1, CDK5, NRAS, TCF4, SMAD4, PTEN, PRKACA, AR, POMK, GNAS, TGFB1, GRM1, NOS3, PPARG, LMX1B, PPP2R1A, THRA, F2, CASR, GRIN2B, RYR1, FGFR1, WAS, MEF2C, CACNA1C, INSR, MECP2, FLNA, TUBB3, CTNNB1, SHANK3, CBL, GM2A, FMR1, ITGA3, KLC2, CRYAB, AAAS, PDGFRA, DNM2, CTNS, PTPN11, WNK1, SOD1, ATP1A3, KRAS, ARHGDIA, MUSK, PCNA, RPS6KA3, BRAF, CLN3, STAT2, GNAI2, INS, TTC19, CASK, PIK3R1

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULIBREY NANISM, SHORT SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, COCKAYNE SYNDROME, TYPE B, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, OPTIC ATROPHY PLUS SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, DISTAL, 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AMINOACYLASE 1 DEFICIENCY, NEMALINE MYOPATHY 5, AMISH TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SITOSTEROLEMIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SPINOCEREBELLAR ATAXIA 36, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, NEPHROTIC SYNDROME, TYPE 8, ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, MYOFIBRILLAR, 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 5, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MIRROR MOVEMENTS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, LIANG DISTAL MYOPATHY, PITUITARY DEPENDENT HYPERCORTISOLISM, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, XANTHINURIA, TYPE I, MYOTONIC DYSTROPHY 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MIRROR MOVEMENTS 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, GLYCOGEN STORAGE DISEASE VII, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MALONYL-COA DECARBOXYLASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKODYSTROPHY, HYPOMYELINATING, 9, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, WARBURG MICRO SYNDROME 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, COLE DISEASE, 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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

DNM2, CAV1, MYH14, NOP56, PRPH, KIF1C, CUL3, PEX6, AP2S1, KRIT1, AGT, PPARG, CDK5, UBA1, ACY1, MYH7, MYO1E, ERCC6, TRIM32, DES, PIK3CA, WNK1, ARHGDIA, CNBP, MYH3, MRE11A, GNAI2, KIF1A, PEX5, ACTA1, DNM1, KRAS, APOA1, KIF21A, PGK1, NOS3, ATP2A1, PIGT, RYR1, KIF5A, SQSTM1, ARFGEF2, ABCA1, EXOSC8, KIF5C, MEGF10, C2, TNNT1, DNM1L, ATL1, TAF1, ERCC5, GTPBP3, ABCD4, XDH, RAB18, OPA1, RPS6KA3, ENPP1, WAS, BRAF, INS, ABCC8, SNAP25, CAV3, BANF1, EEF1A2, DDX3X, OAT, CTNNB1, NRAS, MT-ATP6, SMAD4, LDHA, ABCG8, TPM2, GMPPB, DLG3, CASR, CTDP1, CTSD, GNA11, GRIN2B, SSR4, TUBB3, TUBB2A, VDR, DCC, ACACA, DDX58, RAD51, ATP5A1, DCTN1, DNA2, KIF11, NONO, DDOST, LIPE, DYNC1H1, PFKM, PEX1, AR, FLNA, HINT1, IGHMBP2, LAMA2, ABCG5, PIK3R2, ENTPD1, VCP, TGFB1, CASK, ACVR1, PCNA, INSR, PTPN11, KIF7, ABCC9, MYH8, GNAS, ITPA, FLNC, PEX19, MLYCD, PTEN, HACE1, TRIM37, TUFM, RARS, PIK3R1

SPINAL MUSCULAR ATROPHY, JOKELA TYPE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, COCKAYNE SYNDROME, TYPE B, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, ZIMMERMANN-LABAND SYNDROME 1, NEMALINE MYOPATHY 5, AMISH TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MENTAL RETARDATION, X-LINKED 102, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), BANNAYAN-RILEY-RUVALCABA SYNDROME, MIRROR MOVEMENTS 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, LIANG DISTAL MYOPATHY, FRAGILE X TREMOR/ATAXIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MYOTONIC DYSTROPHY 2, TANGIER DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, ?AL-GAZALI-BAKALINOVA SYNDROME, GLYCOGEN STORAGE DISEASE VII, GLYCOGEN STORAGE DISEASE XII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MYASTHENIC SYNDROME, CONGENITAL, 16, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GLYCOGEN STORAGE DISEASE XI, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, PEROXISOME BIOGENESIS DISORDER 11B, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?SPASTIC PARAPLEGIA 63, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKODYSTROPHY, HYPOMYELINATING, 9, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, INFANTILE CEREBELLAR-RETINAL DEGENERATION, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, COLE DISEASE, 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, BRODY MYOPATHY, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY

MYH14, CNBP, KIF1C, CUL3, PEX6, AP2S1, ALDOA, ATP6V1B2, ENPP1, MYH7, MYO1E, ERCC6, WNK1, ADSL, PRKAG2, EXOSC8, KIF1A, PEX5, ACTA1, TAF1, APOA1, KIF21A, PGK1, NOS3, ATP2A1, KIF5A, ABCA1, MRE11A, KIF5C, MEGF10, CHCHD10, TNNT1, FMR1, PFKM, ABCG8, MT-CYB, ABCD4, RPS6KA3, INS, ABCC8, MT-CO1, BANF1, DDX3X, CTNNB1, MT-ATP6, MYH3, LDHA, RAD51, SNIP1, GMPPB, CTDP1, TUBB3, NDUFS1, VCP, ATP5A1, SLC25A4, DCTN1, DNA2, KIF11, CTNS, PEX13, PTEN, DDOST, DYNC1H1, ADK, PEX1, AR, IGHMBP2, VPS13A, LAMA2, ABCG5, ENTPD1, TGFB1, RARS, MT-CO2, INSR, KIF7, AMPD1, ABCC9, MYH8, PCNA, ATP1A3, GRIN2B, PEX19, PMPCA, ACO2, AMPD2, PIK3R1, TUFM, CASK, SURF1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, NEMALINE MYOPATHY 9, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, MYOPATHY, CENTRONUCLEAR, 4, BARTH SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, SHORT 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, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MIYOSHI MUSCULAR DYSTROPHY 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MYOPATHY, SPHEROID BODY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PITUITARY DEPENDENT HYPERCORTISOLISM, PHELAN-MCDERMID SYNDROME, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, LEBER OPTIC ATROPHY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, EMBERGER SYNDROME, NON-IMMUNE HYDROPS FETALIS, ?INFANTILE LIVER FAILURE SYNDROME 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LYMPHEDEMA, HEREDITARY, IA, TIMOTHY SYNDROME, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CREATINE PHOSPHOKINASE, ELEVATED SERUM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, LIANG DISTAL MYOPATHY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOKALEMIC PERIODIC PARALYSIS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, BECKER MUSCULAR DYSTROPHY, MIRROR MOVEMENTS 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, OGDEN SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MYASTHENIC SYNDROME, CONGENITAL, 16, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PARAMYOTONIA CONGENITA, GLYCOGEN STORAGE DISEASE X, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, MCKUSICK-KAUFMAN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ESCOBAR SYNDROME, MYOPATHY, MYOFIBRILLAR, 3, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MYOPATHY, MYOFIBRILLAR, 2, MYHRE SYNDROME, MYOTONIA CONGENITA, RECESSIVE, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MARFAN LIPODYSTROPHY SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MYOTONIA CONGENITA, DOMINANT, 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, BRODY MYOPATHY, AU-KLINE SYNDROME

SOD1, CYBA, MYH14, NCF1, NAA10, CHRNG, PGAM2, NALCN, CUL3, NDUFA1, AP4B1, CDK5, CTNNB1, MYH7, NDUFB11, SCO2, DNM2, GATA2, DES, TTN, PIK3CA, SCN8A, EMD, SMAD4, CAPN3, GNAI2, MYH2, ACTA1, DNM1, PABPN1, SCN4A, CHRND, CCDC78, AR, PGK1, NOS3, ATP2A1, DAG1, RYR1, KIF5A, MEF2C, SQSTM1, CFL2, KIF5C, CBL, MT-ND2, CRYAB, MYOM1, TRDN, MYBPC1, TNNT1, TAF1, TNFRSF1A, CACNA1S, CASR, NDUFA9, PCNA, KLHL41, AGT, INS, GAMT, CAV3, RET, ALDOA, GJA1, MYOT, DYSF, MYH3, FLT4, MKKS, TPM2, TAZ, CNTN1, DMD, GRIN2B, CHRNA1, CLCN1, TUBB3, BIN1, NDUFS1, NDUFS6, TRPM7, PEX5, MUSK, SHANK3, GAA, FLNA, CHRNE, SGCA, HNRNPK, TGFB1, PTPN11, PRKACA, CACNA1C, NDUFS4, MYH8, L1CAM, GNAS, FBN1, FLNC, CHRNB1, PTEN, DCC, ITGA7, TCAP, MYH11, HSPG2, NEB, LARS, TPM3, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SPINAL MUSCULAR ATROPHY, JOKELA TYPE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, CARDIOMYOPATHY, HYPERTROPHIC 6, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11B, CAMURATI-ENGELMANN DISEASE, CAPOS SYNDROME, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, ARTS SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ?SPASTIC PARAPLEGIA 63, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, BANNAYAN-RILEY-RUVALCABA SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, LEBER OPTIC ATROPHY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ?HYDROXYKYNURENINURIA, ACETYL-COA CARBOXYLASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, IMMUNODEFICIENCY 23, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), ADENYLOSUCCINASE DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, OSSEOUS HETEROPLASIA, PROGRESSIVE, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, COWCHOCK SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, X-LINKED 19, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 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, MYASTHENIC SYNDROME, CONGENITAL, 16, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GLYCOGEN STORAGE DISEASE XII, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY

TUFM, AR, ALDOA, OAT, SMN2, PRPS1, ACACA, MT-ATP6, ADSL, BCS1L, KYNU, GNAS, TGFB1, RPS6KA3, CHCHD10, GMPPB, CASK, MT-CO2, DDOST, GFPT1, TK2, NADK2, SLC25A32, ITPA, NDUFA10, AMPD1, AIFM1, GMPPA, ATP5A1, INS, COX15, PGM3, GRIN2B, ATP1A3, COASY, PTEN, WNK1, PEX13, AMPD2, RRM2B, PANK2, PRKAG2, ADCY5, SURF1, GNAI2, SLC35A3, DHFR, ADK, PMM2, MT-CO1

COLD-INDUCED SWEATING SYNDROME 1, LOEYS-DIETZ SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, HELSMOORTEL-VAN DER AA SYNDROME, CAMURATI-ENGELMANN DISEASE, PITUITARY ADENOMA, ACTH-SECRETING, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CEROID LIPOFUSCINOSIS, NEURONAL, 3, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYHRE SYNDROME, SHORT SYNDROME, PHELAN-MCDERMID SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CLOVE SYNDROME, SOMATIC, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PERIODIC FEVER, FAMILIAL, ?MENTAL RETARDATION, X-LINKED 91, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, BRODY MYOPATHY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, FRAGILE X TREMOR/ATAXIA SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, ?MYOPATHY, SCAPULOHUMEROPERONEAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS

ACTA1, VDR, NRAS, TTR, F2, F13A1, CLN3, SOD1, SMAD4, NOTCH1, TGFB1, SHANK3, NOS3, PPARG, ATP2A1, TGFB3, CASR, AGT, GPI, WAS, CDK5, INSR, MECP2, KRAS, MEF2C, DNMT1, FGFR1, BRAF, CRLF1, FMR1, THRA, NEFL, PCNA, RET, PIK3CA, PTPN11, TNFRSF1A, AARS, ADNP, ZDHHC15, XRCC4, GCLC, STAMBP, PIK3R1, GNAI2, INS, PTEN, SKI

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CAMURATI-ENGELMANN DISEASE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MYOPATHY, TUBULAR AGGREGATE, 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, STORMORKEN SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, PITUITARY ADENOMA, ACTH-SECRETING, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CK SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, TIMOTHY SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, CREATINE PHOSPHOKINASE, ELEVATED SERUM, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, HYPOKALEMIC PERIODIC PARALYSIS 1, IMMUNODEFICIENCY 10, BECKER MUSCULAR DYSTROPHY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 8, INFANTILE MYOFIBROMATOSIS 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SINGLETON-MERTEN SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CEROID LIPOFUSCINOSIS, NEURONAL, 3, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MYHRE SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, LYMPHOPROLIFERATIVE SYNDROME 2, NEPHROTIC SYNDROME, TYPE 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

ACTA1, LCK, CAV3, STIM1, GRIN2B, CAV1, CHRNE, FGFR1, CLN3, VAPB, SMAD4, PTEN, HEXB, PRKACA, AR, PLCE1, TXN2, TGFB1, GRM1, PIK3R2, CYP27B1, ATP2A1, F2, CASR, AGT, DMD, GCK, PPARG, POU1F1, MT-CO2, CACNA1C, NOS3, FLNA, NSDHL, TUBB3, GJA1, TPI1, DMPK, VDR, MYH7, BRAF, DDX58, CBL, CD27, TRDN, ATP5A1, L1CAM, GNAS, PDGFRA, PTPN11, DES, PIK3CA, TMEM165, CACNA1S, PRF1, PDGFRB, TRPV4, GCLC, CFL2, RPS6KA3, WAS, BTK, GNAI2, INS, MICU1, RYR1, PIK3R1

PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, SHORT SYNDROME, ADENYLOSUCCINASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, D-BIFUNCTIONAL PROTEIN DEFICIENCY, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MANDIBULOACRAL DYSPLASIA, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), VLCAD DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RIPPLING MUSCLE DISEASE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, FANCONI RENOTUBULAR SYNDROME 2, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, NEPHROTIC SYNDROME, TYPE 8, LEBER OPTIC ATROPHY, MYOPATHY, MYOFIBRILLAR, 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, PERRAULT SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, VITAMIN D-DEPENDENT RICKETS, TYPE I, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MUSCULAR DYSTROPHY, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, NEPHROTIC SYNDROME, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLYCEROL KINASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, GABA-TRANSAMINASE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, TYROSINEMIA, TYPE I, PEROXISOME BIOGENESIS DISORDER 11B, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY DUE TO CPT II DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, COENZYME Q10 DEFICIENCY, PRIMARY, 3, MYHRE SYNDROME, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?HYDROXYKYNURENINURIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, 2-METHYLBUTYRYLGLYCINURIA, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CPT II DEFICIENCY, LETHAL NEONATAL, 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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

PEX5, TUFM, CAV3, TTR, KYNU, CAV1, OAT, FGFR1, CTNNB1, CDK5, PDSS2, SLC34A1, ALDH6A1, ADSL, ACADS, ACADVL, HSD17B4, GK, PRPH, RAD51, NOS3, PEX12, LMNA, AGT, ABAT, GPT2, PPARG, MT-CO2, PPP2R1A, HIBCH, PTPN11, QARS, DMGDH, CPT1A, ABHD12, VDR, CYP27B1, SLC25A32, FGF23, HADH, IBA57, LIPE, NPHS1, MT-CYB, PNPLA8, PCNA, NEFL, EEF1A2, DES, PEX19, PTEN, MCCC2, PEX13, ACADSB, ARHGDIA, HADHA, SMAD4, ECHS1, HSD17B10, PEX2, CYP24A1, LPIN1, CPT2, PIK3R1, INS, MCCC1, DHFR, CTSD, HADHB, FAH

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, LATERAL MENINGOCELE SYNDROME, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, BECKER MUSCULAR DYSTROPHY, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MACHADO-JOSEPH DISEASE, FANCONI RENOTUBULAR SYNDROME 2, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, DISTAL, TATEYAMA TYPE, AGAMMAGLOBULINEMIA, X-LINKED 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, MENTAL RETARDATION, X-LINKED 99, DUANE-RADIAL RAY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, SHPRINTZEN-GOLDBERG SYNDROME, HEMOCHROMATOSIS, TYPE 2A, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CAPOS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PHELAN-MCDERMID SYNDROME, NEPHROTIC SYNDROME, TYPE 8, FRONTOMETAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 44, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, WRINKLY SKIN SYNDROME, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MYHRE SYNDROME, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, ?MICROHYDRANENCEPHALY, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, IVIC SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, EMBERGER SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, LOEYS-DIETZ SYNDROME 5, LYMPHEDEMA, HEREDITARY, IA, TIMOTHY SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, KOSAKI OVERGROWTH SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, LAMB-SHAFFER SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, LEUKODYSTROPHY, HYPOMYELINATING, 12, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, EPISODIC ATAXIA, TYPE 6, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, TANGIER DISEASE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, ?MYOFIBROMATOSIS, INFANTILE 2, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, MIRROR MOVEMENTS 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SINGLETON-MERTEN SYNDROME 2, GLYCOGEN STORAGE DISEASE VII, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INFANTILE MYOFIBROMATOSIS 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PEROXISOME BIOGENESIS DISORDER 11B, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, MYOPATHY, DISTAL, 4, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MYOPATHY, MYOFIBRILLAR, 2, LYMPHEDEMA, HEREDITARY, ID, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GLYCOGEN STORAGE DISEASE 0, MUSCLE, PSEUDOHYPOALDOSTERONISM, TYPE 2, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MARFAN LIPODYSTROPHY SYNDROME, NEPHROTIC SYNDROME, TYPE 3, FACTOR XIIIA DEFICIENCY, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 17, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHEDIAK-HIGASHI SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

SLC34A1, CAV1, KIF5A, MYH14, CAV3, PLEKHG5, VPS11, CUL3, COL3A1, AP2S1, F2, MAG, AGT, PPARG, CDK5, CTNNB1, BTK, KMT2A, FBN1, MYO1E, SALL4, PDP1, DNM2, DES, PIK3CA, WNK1, LTBP4, HNRNPA1, PDGFRB, TBK1, ARHGDIA, PRKAG2, GNAI2, ATP6V0A2, MUSK, ACTA1, ACVR1, FBLN5, APOA1, AR, PLCE1, PGK1, NOS3, THRA, FSHB, GATA2, FGFR1, MEF2C, SQSTM1, COL1A2, STAT2, GFPT1, AGRN, CBL, PLEKHG2, TFG, MYOM1, SOX5, SPARC, GNAS, AP1S2, CRYAB, EEF1A2, TAF1, TNFRSF1A, CHAT, ATP6V1B2, NOTCH3, NDST1, PCNA, BIN1, RPS6KA3, AP4B1, STAMBP, ADCY5, BRAF, INS, PLIN1, NCF1, TTR, RET, ALDOA, AGL, HFE2, GJA1, SSR4, SMAD4, USP9X, DNAJB6, SLC22A5, F13A1, FLT4, VEGFC, GYS1, TGFB3, CASR, DMD, GNA11, COL4A1, PPP2R1A, GRIN2B, LTBP2, NDE1, SMC1A, TUBB3, KRAS, TUBB2A, FOXC2, DDX58, HTR1A, DIAPH1, ATP1A3, SLC25A4, DCTN1, KIF11, PEX13, PTEN, TRPV4, SHANK3, DST, DYNC1H1, SCYL1, LCK, NRAS, FLNA, FGF23, PSAP, HNRNPK, SLC9A6, NOTCH1, PIK3R2, TGFB1, LYST, PTPN11, DMPK, WAS, PRKACA, CACNA1C, INSR, MED25, LIPE, DNMT1, LRP4, LIFR, PDGFRA, STRADA, ATP5A1, FLNC, CTCF, F10, PFKM, DCC, ATXN3, SLC1A3, MYH11, HSPG2, NEB, SKI, TMEM199, KRIT1, CASK, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EMBERGER SYNDROME, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, CORPUS CALLOSUM, PARTIAL AGENESIS OF, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PARAMYOTONIA CONGENITA, TIMOTHY SYNDROME, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULODENTODIGITAL DYSPLASIA, RIPPLING MUSCLE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, NON-IMMUNE HYDROPS FETALIS, CEROID LIPOFUSCINOSIS, NEURONAL, 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DUCHENNE MUSCULAR DYSTROPHY, BECKER MUSCULAR DYSTROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, HYPOKALEMIC PERIODIC PARALYSIS 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, MYOPATHY, DISTAL, TATEYAMA TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYASTHENIC SYNDROME, CONGENITAL, 16, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

CAV3, SCN4A, GNA11, GJA1, MYH14, GNAS, NOS3, ATP2A1, DMD, KIF5A, PRKACA, CACNA1C, CHRNA1, SCN9A, CLN3, KIF5C, SCN11A, L1CAM, GRIN2B, DES, SCN8A, ITGA7, MUSK, ANK3, GNAI2, INS, GATA2

CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, IA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, 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, MACHADO-JOSEPH DISEASE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CAPOS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PHELAN-MCDERMID SYNDROME, NEPHROTIC SYNDROME, TYPE 8, FRONTOMETAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 44, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, WRINKLY SKIN SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, FACTOR X DEFICIENCY, ?MICROHYDRANENCEPHALY, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, EMBERGER SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, KOSAKI OVERGROWTH SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, EPISODIC ATAXIA, TYPE 6, TANGIER DISEASE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, BECKER MUSCULAR DYSTROPHY, MIRROR MOVEMENTS 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SINGLETON-MERTEN SYNDROME 2, GLYCOGEN STORAGE DISEASE VII, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INFANTILE MYOFIBROMATOSIS 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PEROXISOME BIOGENESIS DISORDER 11B, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, DISTAL, 4, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MYOPATHY, MYOFIBRILLAR, 2, LYMPHEDEMA, HEREDITARY, ID, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE 2, MARFAN LIPODYSTROPHY SYNDROME, NEPHROTIC SYNDROME, TYPE 3, FACTOR XIIIA DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AU-KLINE SYNDROME, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

CAV1, KIF5A, CAV3, PLEKHG5, CUL3, COL3A1, AP2S1, F2, MAG, AGT, PPARG, CDK5, GJA1, BTK, FBN1, MYO1E, DNM2, DES, PIK3CA, WNK1, HNRNPA1, PDGFRB, TBK1, ARHGDIA, PRKAG2, GNAI2, ATP6V0A2, MUSK, ACTA1, F13A1, KRAS, APOA1, AR, PLCE1, PGK1, NOS3, THRA, GATA2, FGFR1, MEF2C, SQSTM1, COL1A2, AGRN, CBL, MYOM1, GNAS, AP1S2, CRYAB, EEF1A2, VEGFC, ATP6V1B2, TNFRSF1A, KRIT1, NDST1, PCNA, BIN1, RPS6KA3, AP4B1, WAS, ADCY5, BRAF, INS, NCF1, TTR, RET, ALDOA, CTNNB1, SSR4, DNAJB6, FLT4, PFKM, CASR, DMD, SLC9A6, PPP2R1A, GRIN2B, TUBB3, NDE1, TUBB2A, FOXC2, DDX58, HTR1A, DIAPH1, ATP1A3, DCTN1, KIF11, PEX13, PTEN, TRPV4, SHANK3, STAT2, DYNC1H1, SCYL1, LCK, NRAS, FLNA, FGF23, PSAP, HNRNPK, NOTCH1, PIK3R2, TGFB1, PTPN11, STAMBP, PRKACA, INSR, PLEKHG2, DST, DNMT1, PDGFRA, STRADA, ATP5A1, FLNC, CTCF, F10, DCC, ATXN3, SLC1A3, MYH11, HSPG2, NEB, TMEM199, PIK3R1

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2

DPM2, POMT2, VCP, POMT1, DPM1, ISPD

CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2

DPM2, POMT2, VCP, POMT1, DPM1, ISPD

SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, BARTH SYNDROME, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, ?SPINOCEREBELLAR ATAXIA 34, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, MYOTUBULAR MYOPATHY, X-LINKED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, BOUCHER-NEUHAUSER SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AMYOTROPHIC LATERAL SCLEROSIS 11, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, PITUITARY ADENOMA, ACTH-SECRETING, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, FRONTOMETAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 44, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, MYOPATHY, MYOFIBRILLAR, 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, OLIVER-MCFARLANE SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, NEPHROTIC SYNDROME, TYPE 1, CHANARIN-DORFMAN SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLYCEROL KINASE DEFICIENCY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, TANGIER DISEASE, GLYCOGEN STORAGE DISEASE VII, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ?IMMUNODEFICIENCY 22, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, TYROSINEMIA, TYPE I, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, INFANTILE MYOFIBROMATOSIS 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, KOSAKI OVERGROWTH SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RIPPLING MUSCLE DISEASE, MCARDLE DISEASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NEPHROTIC SYNDROME, TYPE 3, ATAXIA-OCULOMOTOR APRAXIA 3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, AU-KLINE SYNDROME, 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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4

SOD1, PGAP1, CAV1, KMT2A, PIGT, PIK3CA, PPARG, CDK5, PIGC, LIPE, PNPLA2, AGK, DES, G6PC, PDGFRB, MTMR14, PIGG, GNAI2, ABHD5, PTEN, FIG4, KRAS, APOA1, CBL, PLCE1, NOS3, LPIN1, RYR1, TNXB, CFL2, STAT2, HADHA, GK, PNPLA8, ELOVL4, PFKM, TNFRSF1A, PNPLA6, INS, PGAP2, PLIN1, CAV3, GJA1, GLE1, BCS1L, PIGY, CHAT, MECP2, TAZ, PYGM, PPP2R1A, ACACA, NPHS1, FAR1, DPM2, PEX5, ECHS1, PIK3R5, DDOST, MTM1, FAH, LCK, SSR4, SERAC1, FLNA, BIN1, HNRNPK, CD59, PIGN, PIK3R2, TGFB1, PTPN11, PIP5K1C, HADHB, PRKACA, NOTCH1, PGAP3, SLC25A1, ABHD12, DPM1, CPT1A, PCNA, PEX19, TUFM, AGPAT2, HSPG2, CHKB, MTRR, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, EMBERGER SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, OPTIC ATROPHY PLUS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MITOCHONDRIAL DNA DEPLETION SYNDROME 11, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTH SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), BANNAYAN-RILEY-RUVALCABA SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, PITUITARY ADENOMA, ACTH-SECRETING, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, COWCHOCK SYNDROME, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, 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, MYASTHENIC SYNDROME, CONGENITAL, 16, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, BRODY MYOPATHY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13

PEX5, MGME1, UCHL1, CAV1, MYH14, HINT1, NDUFS1, MT-CO1, BCS1L, PGK1, SQSTM1, TYMP, NDUFA10, MRPS16, MTM1, TAZ, AGT, GATA2, MT-CO2, MRPL44, NOS3, C10orf2, ELAC2, KMT2A, NDUFB9, AIFM1, MYH7, COQ7, PNPT1, LRPPRC, ATP2A1, SUCLA2, SLC25A4, PCNA, DNM1L, MTO1, EEF1A2, F2, PTEN, POLG, NDUFS6, NDUFA1, AFG3L2, HK1, MYH2, OPA1, GCLC, PANK2, LPIN1, NDUFV1, GNAI2, INS, COX15, TUFM, COX10, NDUFS3, CASK, NUBPL

CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, NAIL-PATELLA SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CAMURATI-ENGELMANN DISEASE, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, FUMARASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HEMOCHROMATOSIS, TYPE 2A, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OCULODENTODIGITAL DYSPLASIA, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, SHORT SYNDROME, OCULOECTODERMAL SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, DUCHENNE MUSCULAR DYSTROPHY, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, IA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, BECKER MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, PHELAN-MCDERMID SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA IIB, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, OSSEOUS HETEROPLASIA, PROGRESSIVE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEPHROTIC SYNDROME, TYPE 8, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, STIFF SKIN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MARFAN LIPODYSTROPHY SYNDROME, MIRROR MOVEMENTS 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AMYOTROPHIC LATERAL SCLEROSIS 11, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, AU-KLINE SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, NEPHROTIC SYNDROME, TYPE 6, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEPHROTIC SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27

ACTA1, RET, CAV1, NEFL, TRPV4, BIN1, CDK5, HTR1A, CBL, HNRNPK, CDKL5, NOTCH1, AR, FOXC2, FLT4, TGFB1, SQSTM1, NOS3, LMX1B, ANK3, TGFB3, DLG3, CASR, AGT, DMD, FGFR1, WAS, MEF2C, GRIN2B, ASCC1, MECP2, CFL2, HFE2, TUBB3, KRAS, DNMT1, GJA1, F2, BRAF, NPHS1, AGRN, PTPRO, ITGA3, SCN11A, FH, L1CAM, GNAS, PCNA, KIF5A, DCTN1, FBN1, DNM2, PIK3CA, PTPN11, SCN8A, DCC, PRF1, DAG1, ARHGDIA, MUSK, MYH11, MYH3, HSPG2, CNTN1, SHANK3, FLNA, PIK3R1, GNAI2, INS, PTEN, FIG4

{MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 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, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MIYOSHI MUSCULAR DYSTROPHY 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 44, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, CENTRONUCLEAR MYOPATHY 5, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, BETHLEM MYOPATHY 1, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, MYOFIBRILLAR, 5, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MUSCULAR DYSTROPHY, CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOTONIC DYSTROPHY 2, HYPOKALEMIC PERIODIC PARALYSIS 1, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, LIANG DISTAL MYOPATHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, CARDIOMYOPATHY, DILATED, 1X, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MYOPATHY, MYOFIBRILLAR, 2, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

ACO2, LMNA, TTR, CAV1, CTNNB1, CAV3, SGCD, SMAD4, MYH7, COL5A1, AR, SGCA, TGFB1, LAMA2, NOS3, CASR, AGT, PEX19, RYR1, ACVR1, CDK5, FHL1, COL1A2, COL6A3, LIFR, MEF2C, ATP2B3, NEB, FKTN, MYOM1, BVES, CRYAB, CACNA1S, CNBP, SGCB, FLNC, CHAT, POMGNT1, TCAP, SCN8A, SGCG, SPEG, DYSF, ITGA7, DAG1, EMD, PTEN, MYH11, MYH3, CAPN3, CHKB, STAT2, BRAF, INS, DMD

SPINAL MUSCULAR ATROPHY, JOKELA TYPE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULIBREY NANISM, SHORT SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, 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, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, OPTIC ATROPHY PLUS SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MYOPATHY, DISTAL, 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AMINOACYLASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NEMALINE MYOPATHY 5, AMISH TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, GLYCOGEN STORAGE DISEASE XII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, SPINOCEREBELLAR ATAXIA 36, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, NEPHROTIC SYNDROME, TYPE 8, ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, MYOFIBRILLAR, 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, COCKAYNE SYNDROME, TYPE B, ACETYL-COA CARBOXYLASE DEFICIENCY, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), OCULOECTODERMAL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, MIRROR MOVEMENTS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, LIANG DISTAL MYOPATHY, PITUITARY DEPENDENT HYPERCORTISOLISM, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MYOTONIC DYSTROPHY 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MIRROR MOVEMENTS 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, ?AL-GAZALI-BAKALINOVA SYNDROME, OGDEN SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, WIEDEMANN-STEINER SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MYASTHENIC SYNDROME, CONGENITAL, 16, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MALONYL-COA DECARBOXYLASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKODYSTROPHY, HYPOMYELINATING, 9, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ARTHROGRYPOSIS, DISTAL, TYPE 2A, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, WARBURG MICRO SYNDROME 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, COLE DISEASE, 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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, BRODY MYOPATHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

DNM2, CAV1, MYH14, NOP56, ADSL, MT-CO2, KIF1C, CUL3, PEX6, CHCHD10, ALDOA, ATP6V1B2, AGT, NDUFS1, MTHFR, UBA1, MTAP, MCCC2, MYH7, MYO1E, ERCC6, TRIM32, DES, PIK3CA, WNK1, ARHGDIA, MTO1, CECR1, CNBP, PRKAG2, EXOSC8, GNAI2, KIF1A, NONO, ACTA1, DNM1, KRAS, APOA1, KIF21A, PGK1, NOS3, ATP2A1, PIGT, KIF5A, SQSTM1, ABCA1, MRE11A, KIF5C, MEGF10, ITPA, C2, AP2S1, TNNT1, DNM1L, SUCLA2, ATL1, ABCG8, GTPBP3, MT-CYB, ABCD4, KRIT1, RAB18, OPA1, RPS6KA3, ENPP1, WAS, BRAF, INS, ABCC8, SNAP25, MT-CO1, BANF1, EEF1A2, DDX3X, CTNNB1, NRAS, MT-ATP6, SMAD4, CDK5, LDHA, TAF1, SNIP1, TPM2, GMPPB, CASR, CTDP1, CTSD, GNA11, GRIN2B, NAA10, SSR4, SMC1A, TUBB3, TUBB2A, DCC, ACACA, DDX58, RAD51, ATP5A1, SLC25A4, DCTN1, DNA2, COASY, KIF11, ACY1, CTNS, PEX5, DDOST, DYNC1H1, ADK, PEX1, AR, FLNA, IGHMBP2, VPS13A, MYH3, ABCG5, PIK3R2, ENTPD1, PANK2, VCP, TGFB1, RARS, ACVR1, PRKACA, PCNA, INSR, KIF7, DNMT1, ABCC9, MYH8, GNAS, ATP1A3, FLNC, PEX19, MLYCD, PTEN, PMPCA, LAMA2, HACE1, ACO2, PIK3R1, TRIM37, COX15, TUFM, CASK, SURF1

{MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, BARTH SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, MYHRE SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, FRONTOMETAPHYSEAL DYSPLASIA, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HYPOKALEMIC PERIODIC PARALYSIS 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MYOPATHY, MYOFIBRILLAR, 1, PSEUDOHYPOALDOSTERONISM, TYPE 2, BECKER MUSCULAR DYSTROPHY, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE VII, MYOPATHY, CENTRONUCLEAR, 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AU-KLINE SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

CAV1, KMT2A, HNRNPK, SMAD4, CDK5, AR, CUL3, COL1A2, FLNA, MYF6, DMD, PPARG, MEF2C, COL6A1, BIN1, MYH7, FOXP1, NPHS1, CACNA1S, PFKM, DES, ITGA7, TAZ, CASQ1, MYH14, CTNNB1

MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, LEBER OPTIC ATROPHY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, COWCHOCK SYNDROME, BARTH SYNDROME

AIFM1, MT-CYB, NDUFAF4, TAZ, NDUFAF5, NDUFS4, NDUFS7, NDUFS8, BCS1L, NDUFAF6, NDUFAF3, C10orf2, NUBPL

MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MITOCHONDRIAL DNA DEPLETION SYNDROME 11, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)

POLG, DNA2, MGME1, RNASEH1, RRM2B, C10orf2, TK2

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, IA, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYOPATHY, TUBULAR AGGREGATE, 1, AGAMMAGLOBULINEMIA, X-LINKED 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AMYOTROPHIC LATERAL SCLEROSIS 11, STORMORKEN SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, COWCHOCK SYNDROME, MANDIBULOACRAL DYSPLASIA, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, HEMOCHROMATOSIS, TYPE 2A, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PITUITARY DEPENDENT HYPERCORTISOLISM, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 44, CENTRONUCLEAR MYOPATHY 5, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MALOUF SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TROYER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, IVIC SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, EMBERGER SYNDROME, NON-IMMUNE HYDROPS FETALIS, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, PSEUDOHYPOALDOSTERONISM, TYPE 2, FUMARASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, KOSAKI OVERGROWTH SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, OCULOECTODERMAL SYNDROME, LAMB-SHAFFER SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, INFANTILE MYOFIBROMATOSIS 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRAGILE X TREMOR/ATAXIA SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOKALEMIC PERIODIC PARALYSIS 1, IMMUNODEFICIENCY 10, TANGIER DISEASE, BECKER MUSCULAR DYSTROPHY, ?MYOFIBROMATOSIS, INFANTILE 2, MIRROR MOVEMENTS 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, WIEDEMANN-STEINER SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYASTHENIC SYNDROME, CONGENITAL, 16, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, NAIL-PATELLA SYNDROME, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, GLYCOGEN STORAGE DISEASE XI, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LATERAL MENINGOCELE SYNDROME, LEPRECHAUNISM, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MENTAL RETARDATION, X-LINKED 90, HEART-HAND SYNDROME, SLOVENIAN TYPE, MARFAN LIPODYSTROPHY SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, NEPHROTIC SYNDROME, TYPE 6, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME

FSHB, TRIM32, CAV1, LRP4, LMNA, STIM1, CUL3, SOX5, F2, MAG, AGT, PPARG, INSR, CDK5, ASCC1, UBA1, RBM28, BTK, FMR1, SALL4, FH, DNM2, PIK3CA, SCN8A, PRF1, EMD, PDGFRB, MYH3, GRID2, ARHGDIA, GNAI2, CTNNB1, MUSK, FIG4, ACTA1, SPG20, DNM1, SCN4A, KRAS, HTR1A, CBL, CDKL5, AR, GNAS, NOS3, THRA, GATA2, FGFR1, MEF2C, SQSTM1, CFL2, ABCA1, KIF5C, MEGF10, BANF1, AIFM1, SPEG, TAF1, NOTCH3, RPS6KA3, WAS, BRAF, INS, SNAP25, TTR, GRIN2B, GJA1, SMAD4, LDHA, FLT4, MECP2, LMX1B, KLC2, FLNA, CASR, CNTN1, DMD, PQBP1, COL4A1, PPP2R1A, CHRNA1, SMC1A, TUBB3, SCN11A, DCC, FOXC2, DDX58, NPHS1, NEFL, SKI, KIF11, PTPRO, PTEN, TRPV4, SHANK3, STAT2, LCK, DLG3, CHRNE, BIN1, HNRNPK, TGFB1, PTPN11, CASK, ACVR1, PRKACA, CACNA1C, TCF4, NOTCH1, DNMT1, ITGA3, L1CAM, PCNA, FBN1, RET, TARS2, HACE1, ITGA7, MYH11, HSPG2, PIK3R1, TUFM, HFE2

SPINAL MUSCULAR ATROPHY, JOKELA TYPE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SHORT SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, COCKAYNE SYNDROME, TYPE B, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, OPTIC ATROPHY PLUS SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MYOPATHY, DISTAL, 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AMINOACYLASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NEMALINE MYOPATHY 5, AMISH TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), GLYCOGEN STORAGE DISEASE XII, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, COWCHOCK SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, SPINOCEREBELLAR ATAXIA 36, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, NEPHROTIC SYNDROME, TYPE 8, ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, MYOFIBRILLAR, 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, ACETYL-COA CARBOXYLASE DEFICIENCY, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), OCULOECTODERMAL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, MIRROR MOVEMENTS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MYOTONIC DYSTROPHY 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MIRROR MOVEMENTS 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT, ?AL-GAZALI-BAKALINOVA SYNDROME, GLYCOGEN STORAGE DISEASE VII, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MYASTHENIC SYNDROME, CONGENITAL, 16, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GLYCOGEN STORAGE DISEASE XI, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKODYSTROPHY, HYPOMYELINATING, 9, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, WARBURG MICRO SYNDROME 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, COLE DISEASE, 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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, BRODY MYOPATHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

TRIM32, CAV1, MYH14, NOP56, CNBP, PRKACA, KIF1C, CUL3, PEX6, CHCHD10, ALDOA, ATP6V1B2, AGT, CDK5, UBA1, ACY1, MYH7, MYO1E, ERCC6, DNM2, DES, PIK3CA, WNK1, ARHGDIA, ABCA1, MYH3, PRKAG2, EXOSC8, GNAI2, KIF1A, NONO, ACTA1, AIFM1, DNM1, KRAS, APOA1, KIF21A, PGK1, NOS3, ATP2A1, PIGT, KIF5A, SQSTM1, GFPT1, MRE11A, KIF5C, MEGF10, ITPA, C2, AP2S1, TNNT1, DNM1L, SUCLA2, ATL1, TAF1, GTPBP3, MT-CYB, ABCD4, KRIT1, RAB18, OPA1, RPS6KA3, ENPP1, WAS, BRAF, INS, ABCC8, SNAP25, MT-CO1, BANF1, EEF1A2, DDX3X, CTNNB1, NRAS, MT-ATP6, SMAD4, LDHA, ABCG8, SNIP1, TPM2, GMPPB, CASR, CTDP1, CTSD, GNA11, BCS1L, PPP2R1A, GRIN2B, SSR4, TUBB3, TUBB2A, DCC, ACACA, DDX58, RAD51, ATP5A1, SLC25A4, DCTN1, DNA2, KIF11, CTNS, PEX5, DDOST, DYNC1H1, NDUFS1, PFKM, PEX1, AR, FLNA, IGHMBP2, VPS13A, LAMA2, ABCG5, PIK3R2, ENTPD1, VCP, TGFB1, RARS, ACVR1, MT-CO2, PCNA, INSR, KIF7, ABCC9, MYH8, GNAS, ATP1A3, FLNC, PEX19, PTEN, PMPCA, HACE1, ACO2, PIK3R1, TUFM, CASK, SURF1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LEBER OPTIC ATROPHY AND DYSTONIA, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 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, BARTH SYNDROME, MYHRE SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, LEBER OPTIC ATROPHY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, 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, 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, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MYASTHENIC SYNDROME, CONGENITAL, 16

NDUFS3, MT-ND4, NDUFB3, NDUFS1, MT-ATP6, SMAD4, MT-ND6, NDUFAF1, NDUFA11, SDHA, COQ7, NOS3, NDUFAF2, TAZ, COX6A1, NDUFA12, PPARG, MT-CO2, SCO2, MECP2, NDUFS4, NDUFV2, COQ9, NDUFB9, SDHD, MT-ND2, COX6B1, ACO2, ATP5A1, NDUFB11, COX15, NDUFS6, NDUFS8, NDUFS2, MT-CO3, MT-ND4L, NDUFA2, MT-CYB, UQCRQ, NDUFA1, NDUFA9, COX8A, MT-ND1, MT-ND5, NDUFV1, NDUFA10, INS, MT-ND3, COX10, NDUFS7, MT-CO1

MITOCHONDRIAL DNA DEPLETION SYNDROME 11, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, MIRROR MOVEMENTS 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, WIEDEMANN-STEINER SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE 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, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), ATAXIA-OCULOMOTOR APRAXIA 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, ATAXIA-TELANGIECTASIA-LIKE DISORDER

POLG, DNA2, MGME1, RNASEH1, RRM2B, PCNA, POLG2, PNKP, TK2, C10orf2, SMC1A, POLD1, RAD51, MRE11A

?GLYCOGEN STORAGE DISEASE XV, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, GLYCOGEN STORAGE DISEASE IV, GLYCOGEN STORAGE DISEASE IA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, CARDIOMYOPATHY, HYPERTROPHIC 6, GLYCOGEN STORAGE DISEASE IXC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUSCLE GLYCOGENOSIS, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MCARDLE DISEASE, GLYCOGEN STORAGE DISEASE 0, MUSCLE, POLYGLUCOSAN BODY MYOPATHY 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GLYCOGEN STORAGE DISEASE II, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE

GBE1, NCF1, GAA, PHKB, GYG1, AGL, GCK, GYS1, PRKAG2, PYGM, BRAF, PPP1R3A, CDK5, PGM1, NOTCH1, INS, PHKA1, PHKG2, G6PC, PTPN11

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, ?SPINOCEREBELLAR ATAXIA 34, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MYOTUBULAR MYOPATHY, X-LINKED, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, PORETTI-BOLTSHAUSER SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, RUIJS-AALFS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ATAXIA-TELANGIECTASIA-LIKE DISORDER, SHPRINTZEN-GOLDBERG SYNDROME, SITOSTEROLEMIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CEREBROOCULOFACIOSKELETAL SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAPOS SYNDROME, ?IMMUNODEFICIENCY 22, PITUITARY DEPENDENT HYPERCORTISOLISM, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), MYOPATHY, DISTAL, TATEYAMA TYPE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, STIFF SKIN SYNDROME, EMBERGER SYNDROME, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, MIRROR MOVEMENTS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WIEDEMANN-STEINER SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, EPISODIC ATAXIA, TYPE 6, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GLYCOGEN STORAGE DISEASE X, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LEUKODYSTROPHY, HYPOMYELINATING, 9, MYOPATHY, MYOFIBRILLAR, 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, MYHRE SYNDROME, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, OSTEOGENESIS IMPERFECTA, TYPE XVII, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MARFAN LIPODYSTROPHY SYNDROME, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ATAXIA-OCULOMOTOR APRAXIA 4, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

TRIM32, F2, FGFR1, KMT2A, PGAM2, CUL3, COL3A1, CAV1, SLC1A3, AGT, PPARG, CDK5, ERCC8, GJA1, MYO1E, ERCC6, DNM2, DES, MAFB, EMD, RRM2B, GNAI2, PTEN, ACTA1, DNMT1, DNM1, KRAS, APOA1, AR, GNAS, NOS3, THRA, DAG1, RYR1, LAMA1, SQSTM1, COL1A2, ABCA1, SGCG, MRE11A, AIFM1, WWOX, APTX, CRYAB, AGRN, SPARC, ELOVL4, ABCG8, ERCC5, BRAF, INS, SNAP25, CAV3, TTR, GNA11, CTNNB1, SMAD4, RAD51, MECP2, FLNA, CASR, DMD, PQBP1, PNKP, PPP2R1A, CHRNA1, SMC1A, CYBA, TUBB3, FBLN5, TUBB2A, VDR, FOXC2, DDX58, ATP1A3, POLD1, CTNS, NONO, XRCC4, MUSK, DDOST, TPI1, RBM28, GJB1, LCK, NRAS, CUL4B, DLG3, CHRNE, HNRNPK, ABCG5, PTPN11, TGFB1, RARS, CACNA1C, INSR, NOTCH1, SPRTN, HERC2, UBE2A, NEU1, ATP2A1, PDGFRA, PCNA, FBN1, GRIN2B, GRM1, TCAP, HSPG2, NLRP3, SKI, KIF1BP, GATA2, PIK3R1

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, GLYCOGEN STORAGE DISEASE XII, GLYCOGEN STORAGE DISEASE XI, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, 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, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q

PFKM, PGK1, LDHA, ALDOA, HK1, GCK, GPI, SMAD4, TPI1, PGAM2, INS, PGM1, ENO3, DHTKD1

CLOVE SYNDROME, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NON-IMMUNE HYDROPS FETALIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERIODIC FEVER, FAMILIAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, SHORT SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AMYOTROPHIC LATERAL SCLEROSIS 11, ATAXIA-OCULOMOTOR APRAXIA 3, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ?IMMUNODEFICIENCY 22, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE

LCK, SSR4, PIGY, CBL, PIK3R5, PIGN, PIGT, PIK3R2, PIP5K1C, PPP2R1A, PGAP3, PIGC, DPM1, PIK3CA, TNFRSF1A, DPM2, PTEN, MTMR14, PIGG, DDOST, FIG4, MTM1, INS, TUFM, PGAP2, PIK3R1

NON-IMMUNE HYDROPS FETALIS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, MULTIPLE SULFATASE DEFICIENCY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERIODIC FEVER, FAMILIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, GM2-GANGLIOSIDOSIS, AB VARIANT, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, CEROID LIPOFUSCINOSIS, NEURONAL, 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, KANZAKI DISEASE, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

PIGN, CAV1, CLN3, CBL, DPM1, PIGT, TGFB1, NOS3, GBA2, GLB1, NAGA, ASAH1, B4GALNT1, HEXB, PGAP3, PSAP, PIGC, GLA, PGAP1, NEU1, TNFRSF1A, DPM2, SERAC1, PGAP2, PIGY, HSPG2, PIGG, GM2A, INS, SUMF1

?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, RIPPLING MUSCLE DISEASE, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GLYCOGEN STORAGE DISEASE IA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CHANARIN-DORFMAN SYNDROME, GLYCEROL KINASE DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 34, WIEDEMANN-STEINER SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ACETYL-COA CARBOXYLASE DEFICIENCY, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, TANGIER DISEASE, NEPHROTIC SYNDROME, TYPE 3, GLYCOGEN STORAGE DISEASE VII, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36

PLIN1, CAV3, CAV1, KRAS, APOA1, SSR4, CDK5, GK, PLCE1, NOS3, LPIN1, PPARG, PRKACA, PPP2R1A, PTPN11, KMT2A, ACACA, SLC25A1, LIPE, ELOVL4, INS, PCNA, PFKM, G6PC, NOTCH1, AGPAT2, PNPLA2, CPT1A, ABHD5, MTRR, TNXB

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SHORT SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, COCKAYNE SYNDROME, TYPE B, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, OPTIC ATROPHY PLUS SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, DISTAL, 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AMINOACYLASE 1 DEFICIENCY, NEMALINE MYOPATHY 5, AMISH TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SITOSTEROLEMIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SPINOCEREBELLAR ATAXIA 36, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, NEPHROTIC SYNDROME, TYPE 8, ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, MYOFIBRILLAR, 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, ACETYL-COA CARBOXYLASE DEFICIENCY, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 5, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), OCULOECTODERMAL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, MIRROR MOVEMENTS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MYOTONIC DYSTROPHY 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MIRROR MOVEMENTS 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, GLYCOGEN STORAGE DISEASE VII, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GLYCOGEN STORAGE DISEASE XI, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LEUKODYSTROPHY, HYPOMYELINATING, 9, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, WARBURG MICRO SYNDROME 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, COLE DISEASE, 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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, BRODY MYOPATHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

TRIM32, CAV1, MYH14, NOP56, CNBP, KIF1C, CUL3, PEX6, AP2S1, KRIT1, AGT, CDK5, UBA1, ACY1, MYH7, MYO1E, ERCC6, DNM2, DES, PIK3CA, WNK1, ARHGDIA, MYH3, MRE11A, GNAI2, KIF1A, PEX5, ACTA1, DNM1, KRAS, APOA1, KIF21A, PGK1, NOS3, ATP2A1, PIGT, KIF5A, SQSTM1, ABCA1, EXOSC8, KIF5C, MEGF10, C2, TNNT1, DNM1L, ATL1, TAF1, GTPBP3, ABCD4, RAB18, OPA1, RPS6KA3, ENPP1, ACVR1, BRAF, INS, ABCC8, SNAP25, BANF1, EEF1A2, DDX3X, CTNNB1, NRAS, MT-ATP6, SMAD4, LDHA, ABCG8, TPM2, GMPPB, CASR, CTDP1, CTSD, GNA11, GRIN2B, SSR4, TUBB3, TUBB2A, DCC, ACACA, DDX58, RAD51, ATP5A1, DCTN1, DNA2, KIF11, NONO, DDOST, DYNC1H1, PFKM, PEX1, AR, FLNA, IGHMBP2, LAMA2, ABCG5, PIK3R2, ENTPD1, VCP, RARS, WAS, PCNA, INSR, KIF7, ABCC9, MYH8, GNAS, ITPA, FLNC, PEX19, PTEN, HACE1, TUFM, CASK, PIK3R1

CORPUS CALLOSUM, PARTIAL AGENESIS OF, TRYPSINOGEN DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?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, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, 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 COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, MOLYBDENUM COFACTOR DEFICIENCY A, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, 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, NEU-LAXOVA SYNDROME 2, 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, HINT1, SLC25A32, SLC52A3, MOCS2, TCN2, MTR, ENPP1, MTHFR, INSR, MOCS1, TPK1, MCCC2, ACACA, CBL, APOA1, ATP5A1, L1CAM, PCNA, COASY, MTRR, PSAT1, MCCC1, ABCD4, ABCA1, PRSS1, GCLC, PANK2, STAMBP, C10orf2, INS, DHFR, NDUFS1

TANGIER DISEASE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, TRYPSINOGEN DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, BROWN-VIALETTO-VAN LAERE SYNDROME 1, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, HYPERCALCEMIA, INFANTILE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, TRANSCOBALAMIN II DEFICIENCY, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LEUKODYSTROPHY, HYPOMYELINATING, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, FANCONI RENOTUBULAR SYNDROME 2, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MOLYBDENUM COFACTOR DEFICIENCY A, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, ACETYL-COA CARBOXYLASE DEFICIENCY, 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, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, MOLYBDENUM COFACTOR DEFICIENCY B, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, NEU-LAXOVA SYNDROME 2, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?MYOPATHY, SCAPULOHUMEROPERONEAL, COLE DISEASE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, VITAMIN D-DEPENDENT RICKETS, TYPE I, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

ACTA1, TUFM, CAV3, TTR, OAT, APOA1, SLC34A1, SLC25A32, MTHFR, MOCS2, TCN2, NOS3, CYP27B1, CYP24A1, MTR, ENPP1, RARS, PPARG, SLC52A3, PPP2R1A, INSR, CHMP1A, MOCS1, TPK1, MCCC2, VDR, ACACA, CBL, ATP5A1, L1CAM, PCNA, COASY, MTRR, PSAT1, MCCC1, ABCD4, ABCA1, PRSS1, FGF23, GCLC, PANK2, STAMBP, C10orf2, INS, DHFR, CYP2R1

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, SHORT SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, COCKAYNE SYNDROME, TYPE B, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, OPTIC ATROPHY PLUS SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, DISTAL, 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AMINOACYLASE 1 DEFICIENCY, NEMALINE MYOPATHY 5, AMISH TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SITOSTEROLEMIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SPINOCEREBELLAR ATAXIA 36, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, NEPHROTIC SYNDROME, TYPE 8, ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, MYOFIBRILLAR, 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, ACETYL-COA CARBOXYLASE DEFICIENCY, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 5, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), OCULOECTODERMAL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, MIRROR MOVEMENTS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MYOTONIC DYSTROPHY 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MIRROR MOVEMENTS 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?AL-GAZALI-BAKALINOVA SYNDROME, GLYCOGEN STORAGE DISEASE VII, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GLYCOGEN STORAGE DISEASE XI, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LEUKODYSTROPHY, HYPOMYELINATING, 9, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, WARBURG MICRO SYNDROME 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, COLE DISEASE, 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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, BRODY MYOPATHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

TRIM32, CAV1, MYH14, NOP56, CNBP, KIF1C, CUL3, PEX6, AP2S1, KRIT1, AGT, CDK5, UBA1, ACY1, MYH7, MYO1E, ERCC6, DNM2, DES, PIK3CA, WNK1, ARHGDIA, MYH3, MRE11A, GNAI2, KIF1A, PEX5, ACTA1, DNM1, KRAS, APOA1, KIF21A, PGK1, NOS3, ATP2A1, PIGT, KIF5A, SQSTM1, ABCA1, EXOSC8, KIF5C, MEGF10, C2, TNNT1, DNM1L, ATL1, TAF1, GTPBP3, ABCD4, RAB18, OPA1, RPS6KA3, ENPP1, ACVR1, BRAF, INS, ABCC8, SNAP25, BANF1, EEF1A2, DDX3X, CTNNB1, NRAS, MT-ATP6, SMAD4, LDHA, ABCG8, TPM2, GMPPB, CASR, CTDP1, CTSD, GNA11, GRIN2B, SSR4, TUBB3, TUBB2A, DCC, ACACA, DDX58, RAD51, ATP5A1, DCTN1, DNA2, KIF11, NONO, DDOST, DYNC1H1, PFKM, PEX1, AR, FLNA, IGHMBP2, LAMA2, ABCG5, PIK3R2, ENTPD1, VCP, RARS, WAS, PCNA, INSR, KIF7, ABCC9, MYH8, GNAS, ITPA, FLNC, PEX19, PTEN, HACE1, TUFM, CASK, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, NEMALINE MYOPATHY 9, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAMURATI-ENGELMANN DISEASE, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, MYOPATHY, CENTRONUCLEAR, 4, BARTH SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, SHORT 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, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MYOPATHY, SPHEROID BODY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PITUITARY DEPENDENT HYPERCORTISOLISM, PHELAN-MCDERMID SYNDROME, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, LEBER OPTIC ATROPHY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, 1, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LYMPHEDEMA, HEREDITARY, IA, TIMOTHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CREATINE PHOSPHOKINASE, ELEVATED SERUM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, LIANG DISTAL MYOPATHY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CLOVE SYNDROME, SOMATIC, HYPOKALEMIC PERIODIC PARALYSIS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, BECKER MUSCULAR DYSTROPHY, OGDEN SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MYASTHENIC SYNDROME, CONGENITAL, 16, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PARAMYOTONIA CONGENITA, GLYCOGEN STORAGE DISEASE X, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, MCKUSICK-KAUFMAN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ESCOBAR SYNDROME, MYOPATHY, MYOFIBRILLAR, 3, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MYOPATHY, MYOFIBRILLAR, 2, MYHRE SYNDROME, MYOTONIA CONGENITA, RECESSIVE, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ARTHROGRYPOSIS, DISTAL, TYPE 2A, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, MYOTONIA CONGENITA, DOMINANT, 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, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

MYH14, NCF1, NAA10, CHRNG, PGAM2, NALCN, CUL3, NDUFA1, AGT, FLT4, CTNNB1, MYH7, NDUFB11, DNM2, DES, TTN, PIK3CA, SCN8A, EMD, SMAD4, CCDC78, GNAI2, MYH2, ACTA1, MYOT, PABPN1, SCN4A, CHRND, CAPN3, GNAS, NOS3, ATP2A1, DAG1, RYR1, KIF5A, MEF2C, SQSTM1, CFL2, KIF5C, CBL, MT-ND2, MYOM1, TRDN, TNNT1, MYBPC1, TAF1, CLCN1, CACNA1S, CASR, NDUFA9, KLHL41, AP4B1, INS, GAMT, CAV3, RET, ALDOA, GJA1, DNM1, MYH3, SGCA, MKKS, TPM2, TAZ, DMD, GRIN2B, CHRNA1, TUBB3, NDUFS1, NDUFS6, TRPM7, PEX5, MUSK, SHANK3, GAA, FLNA, CHRNE, BIN1, HNRNPK, TGFB1, PTPN11, PRKACA, CACNA1C, CRYAB, L1CAM, FLNC, CHRNB1, PTEN, ITGA7, MYH8, TCAP, MYH11, HSPG2, NEB, TPM3, PIK3R1

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EMBERGER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOTONIC DYSTROPHY 1, TIMOTHY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, KOSAKI OVERGROWTH SYNDROME, OCULODENTODIGITAL DYSPLASIA, RIPPLING MUSCLE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DUCHENNE MUSCULAR DYSTROPHY, MYHRE SYNDROME, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MYOPATHY, MYOFIBRILLAR, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, BECKER MUSCULAR DYSTROPHY, NEMALINE MYOPATHY 5, AMISH TYPE, NEPHROTIC SYNDROME, TYPE 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, PITUITARY ADENOMA, ACTH-SECRETING, MYOPATHY, DISTAL, TATEYAMA TYPE, BRODY MYOPATHY, ?IMMUNODEFICIENCY 22, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS

ACTA1, LCK, NCF1, CAV1, TRPV4, GJA1, CDK5, HTR1A, CAV3, SMAD4, PRKACA, CASQ1, PLCE1, NOS3, ATP2A1, CASR, AGT, DMD, MEF2C, CACNA1C, PTPN11, DMPK, TRDN, CRYAB, TNNT1, TRIM32, GATA2, SOD1, PDGFRB, MYH11, CAPN3, GNAI2, INS, MUSK