MUSCLE AND SOFT TISSUES

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARTHROGRYPOSIS, DISTAL, TYPE 5, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, BARTTER SYNDROME, TYPE 2, 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, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MYOPATHY, TUBULAR AGGREGATE, 1, LYMPHEDEMA, HEREDITARY, III, EPISODIC ATAXIA/MYOKYMIA SYNDROME, STORMORKEN SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ARTHROGRYPOSIS, DISTAL, TYPE 3, CORPUS CALLOSUM, PARTIAL AGENESIS OF, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MARDEN-WALKER SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, 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}, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MYOPATHY, TUBULAR AGGREGATE, 2, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, KEPPEN-LUBINSKY SYNDROME, EMBERGER SYNDROME, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, TIMOTHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, NEPHROTIC SYNDROME, TYPE 2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, HYPOKALEMIC PERIODIC PARALYSIS 1, IMMUNODEFICIENCY 10, BECKER MUSCULAR DYSTROPHY, HYPOMAGNESEMIA 1, INTESTINAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MYASTHENIC SYNDROME, CONGENITAL, 16, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, 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, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, MYOPATHY, DISTAL, 4, HYPERALDOSTERONISM, FAMILIAL, TYPE III, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESCOBAR SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ?MYASTHENIC SYNDROME, CONGENITAL, 18, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, IMMUNODEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

CAV3, KCNJ5, STIM1, GRIN2B, CAV1, CHRNE, CTNNB1, CDK5, KCNJ1, CHRNG, PRKACA, NALCN, SQSTM1, TGFB1, GRM1, NOS3, ANK3, ANO10, KRAS, SCN4A, DAG1, CNTN1, DMD, KCNJ6, CHRNA1, NPHS2, CACNA1C, KCNJ11, PTPN11, FLNA, SCN9A, CYBA, SCN11A, HERC2, GJA1, ORAI1, CHRND, PIEZO2, KCNA1, TRPM6, ABCC9, PIEZO1, L1CAM, PCNA, NCF2, GATA2, TRPM7, CHRNB1, FLNC, PTEN, SCN8A, CACNA1S, ITGA7, KCNT1, RYR1, MUSK, TRPV4, KCNH1, AGT, VCP, BRAF, INS, ABCC8, SNAP25, CTSD, CASK, PIK3R1

HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, GLYCOGEN STORAGE DISEASE XI, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, PARAMYOTONIA CONGENITA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, TIMOTHY SYNDROME, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULODENTODIGITAL DYSPLASIA, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, RIPPLING MUSCLE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DUCHENNE MUSCULAR DYSTROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, MYOPATHY, MYOFIBRILLAR, 1, BECKER MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, HYPOKALEMIC PERIODIC PARALYSIS 1, MYOPATHY, DISTAL, TATEYAMA TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, MYASTHENIC SYNDROME, CONGENITAL, 16, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

CAV3, LDHA, SCN4A, GJA1, AR, NOS3, ATP2A1, KCNJ11, CASR, RYR1, CACNA1C, CTNNB1, FHL1, PACS1, DIAPH1, ABCC9, TRDN, GRIN2B, DES, GRM1, TCAP, ANK3, INS, ABCC8, DMD

D-BIFUNCTIONAL PROTEIN DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, PERRAULT SYNDROME 1, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

HADHB, HSD17B4, HADHA, HSD17B10, HADH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SHPRINTZEN-GOLDBERG SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OCULODENTODIGITAL DYSPLASIA, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, RIPPLING MUSCLE DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MIRROR MOVEMENTS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, LEUKODYSTROPHY, HYPOMYELINATING, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LEBER OPTIC ATROPHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, EPISODIC ATAXIA, TYPE 6, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MYOPATHY, MYOFIBRILLAR, 1, HEART-HAND SYNDROME, SLOVENIAN TYPE, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, GLYCOGEN STORAGE DISEASE XII, MALOUF SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, GLYCOGEN STORAGE DISEASE VII, JOUBERT SYNDROME 25, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MYOPATHY, DISTAL, TATEYAMA TYPE, JOHANSON-BLIZZARD SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MANDIBULOACRAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

CAV3, PFKM, ALDOA, CTNNB1, LMNA, DYSF, PTEN, MT-CO2, PTRF, TGFB1, NOS3, YARS2, SLC1A3, AGT, RARS, MTHFR, UBR1, GFPT1, GJA1, KIF5C, FHL1, AARS, NEFL, PCNA, SUCLA2, GRIN2B, DES, RAD51, DHFR, MT-CYB, HNRNPA1, SNAP25, CEP104, GCLC, INS, KIF1BP, BIN1, PEX5

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, LEUKODYSTROPHY, HYPOMYELINATING, 9, ?INFANTILE LIVER FAILURE SYNDROME 1, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, MYHRE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, LEUKODYSTROPHY, HYPOMYELINATING, 3, PONTOCEREBELLAR HYPOPLASIA, TYPE 6

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

CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, BARTTER SYNDROME, TYPE 2, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 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, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, PITUITARY ADENOMA, ACTH-SECRETING, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SHPRINTZEN-GOLDBERG SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FRONTOMETAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 44, NEPHROTIC SYNDROME, TYPE 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, MYOFIBRILLAR, 1, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, 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, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CREATINE PHOSPHOKINASE, ELEVATED SERUM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, MARINESCO-SJOGREN SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, BECKER MUSCULAR DYSTROPHY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INFANTILE MYOFIBROMATOSIS 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, COENZYME Q10 DEFICIENCY, PRIMARY, 3, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 9, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, 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, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

ACTA1, LCK, NCF1, TTR, SYT2, ALDOA, ZFYVE26, BIN1, GJA1, APOA1, CAV3, DYSF, SMAD4, ECHS1, CAPN3, PGK1, TGFB1, PIGT, NOS3, CACNA1C, PTRF, CAV1, CASR, AP4B1, DMD, PPARG, CTNNB1, CDK5, CASK, PPP2R1A, GRIN2B, INSR, SBF1, FLNA, AMER1, BTK, ABCA1, KMT2A, TPI1, RARS, DNMT1, FHL1, F2, MTM1, KCNJ1, CBL, PDSS2, MYO1E, SNX14, TNNT1, RAPSN, L1CAM, PCNA, DCTN1, HNRNPK, DNM2, DOK7, DES, PIK3CA, PTEN, F10, SOD1, KRIT1, SIL1, ARHGDIA, SNAP25, PDGFRB, TRPV4, TBK1, HSPG2, AGT, WAS, STAT2, GTPBP3, GNAI2, PTPN11, INS, KIF1BP, MUSK, PIK3R1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, MULTIPLE ENDOCRINE NEOPLASIA IIB, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, IMMUNODEFICIENCY 44, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, MYOFIBRILLAR, 5, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, WELANDER DISTAL MYOPATHY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ARTS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, HYPOKALEMIC PERIODIC PARALYSIS 1, SENGERS SYNDROME, BARTTER SYNDROME, TYPE 4B, DIGENIC, ?AL-GAZALI-BAKALINOVA SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, OGDEN SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, MYASTHENIC SYNDROME, CONGENITAL, 16, HYPOMAGNESEMIA 6, RENAL, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, COENZYME Q10 DEFICIENCY, PRIMARY, 3, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LIVER FAILURE, TRANSIENT INFANTILE, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, COLE DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), FUMARASE DEFICIENCY, PITT-HOPKINS SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 12/35, SHPRINTZEN-GOLDBERG SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 1, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), LEGIUS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, OPTIC ATROPHY PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, NEPHROTIC SYNDROME, TYPE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, ?MYASTHENIC SYNDROME, CONGENITAL, 18, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 9, LEUKODYSTROPHY, HYPOMYELINATING, 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, BRODY MYOPATHY, GLYCOGEN STORAGE DISEASE IV, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, COCKAYNE SYNDROME, TYPE B, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, 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, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, CAPOS SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, FRONTOMETAPHYSEAL DYSPLASIA, CENTRONUCLEAR MYOPATHY 5, CHOREOACANTHOCYTOSIS, FANCONI RENOTUBULAR SYNDROME 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, OSSEOUS HETEROPLASIA, PROGRESSIVE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOTONIC DYSTROPHY 1, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, KOSAKI OVERGROWTH SYNDROME, MYOTONIA CONGENITA, DOMINANT, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, GLYCOGEN STORAGE DISEASE IXC, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, HYPOMAGNESEMIA 1, INTESTINAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, SINGLETON-MERTEN SYNDROME 2, MCKUSICK-KAUFMAN SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MCARDLE DISEASE, MYOPATHY, MYOFIBRILLAR, 2, BARTTER SYNDROME, TYPE 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, D-2-HYDROXYGLUTARIC ACIDURIA, MYHRE SYNDROME, MYOTONIA CONGENITA, RECESSIVE, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, MULTIPLE SULFATASE DEFICIENCY, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SHORT SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), VLCAD DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPINOCEREBELLAR ATAXIA 36, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MENTAL RETARDATION, X-LINKED 90, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, WARBURG MICRO SYNDROME 3, ?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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, NONAKA MYOPATHY

FGFR1, VARS2, SLC34A1, ACADS, CUL3, KRIT1, ENPP1, HNRNPDL, UBA1, NLRP12, KIF7, PTRH2, FH, AGK, TTN, WNK1, MYO18B, NONO, PHKB, SCN4A, APOA1, KIF21A, GNAS, THRA, C2, DAG1, SPRED1, MRE11A, AIFM1, CBL, KCNJ1, SUCLA2, SPEG, MKKS, MT-CYB, ABCD4, NDUFA1, NDUFA10, CAV3, BANF1, OAT, CTNNB1, PRPS1, NRAS, SMAD4, MTHFR, RAD51, TPM2, IARS2, CTDP1, CTSD, NARS2, PPP2R1A, PNKP, TPI1, AIP, DNAH14, LRPPRC, STAMBP, NPHS1, TRMU, VPS13A, KIF11, SOD1, GNE, PEX5, XRCC4, GLYCTK, ADK, CUL4B, FGF23, HINT1, HNRNPK, PIK3R2, LAMA2, PTPN11, DMPK, VPS11, D2HGDH, TPK1, LIPE, CLCNKB, ERCC6, GRIN2B, SNAP25, POMK, ATXN3, SARS2, RARS, NDUFS2, TRIM32, CYBA, SMN2, LARS, NAA10, MT-CO2, KIF1C, PGK1, MOCS2, COL1A2, AP4B1, ACY1, MCCC2, MYH7, HADH, MYO1E, ARHGDIA, CAPN3, AARS2, KIF1A, LDHA, CLCNKA, NOTCH1, ATP2A1, GPI, MEF2C, CFL2, SUCLG1, EXOSC8, KIF5C, GK, EARS2, MYOM1, HARS, NLRC4, XDH, RAB18, NLRP5, UPF3B, BRAF, KAT6A, DMD, NCF1, UBE2A, VRK1, DNAJB6, DARS2, FLT4, SNIP1, GMPPB, TAZ, TRIM2, SMC1A, VDR, COQ9, ITPA, BSND, HK1, BVES, FARS2, GCLC, DYNC1H1, SCYL1, NDUFV1, PEX1, AR, DLG3, SETX, AIMP1, TBCK, SDHA, ABCG5, PIP5K1C, DDX58, HADHA, DNMT1, CRYAB, PCNA, DHFR, ALDH18A1, NLRP3, SKI, C10orf2, LMNA, F2, KIF5A, MYH14, IFIH1, SQSTM1, PEX6, AP2S1, CAV1, ATP6V1B2, AGT, VPS53, CDK5, NADK2, IGHMBP2, FMR1, NOP56, PIK3CA, HNRNPA1, ABCA1, MTO1, TBK1, PRKAG2, MYH2, NUBPL, ACTA1, DNM1, GBE1, HTR1A, CDKL5, NOS3, TIA1, GATA2, ADCK3, GFPT1, PLOD1, PLOD3, PSMB8, APTX, ACAD9, PNPLA8, DNM1L, EEF1A2, CLCN1, GTPBP3, TMEM173, RPS6KA3, WAS, INS, ABCC8, ATL1, YARS2, TNPO3, HSD17B10, SDHD, SLC22A5, LMX1B, TSFM, CNTN1, TXN2, BICD2, BCS1L, RAPSN, TNFRSF1A, TMEM165, CNNM2, PSAP, CYBB, ACACA, ATP5A1, DCTN1, DNA2, POLD1, MCCC1, TRPM7, ACADSB, PTEN, TRPV4, STAT2, TK2, FAH, PFKM, SSR4, THOC2, PDSS2, PHKG2, MED25, PANK2, TGFB1, ACVR1, TCF4, TRPM6, SGCG, ABCC9, STRADA, UCHL1, TARS2, MOCS1, F10, POLG, TRIM37, TUFM, MARS2, CARS2, ATP2B3, CNBP, PABPN1, PIGT, DNM2, DDX3X, RNASEH1, PPARG, AGL, RBM28, BTK, IBA57, NEU1, SCN8A, AARS, AFG3L2, PDGFRB, KRAS, RBM8A, LPIN1, TARDBP, ARFGEF2, MEGF10, GNAI2, MRPL44, NSUN2, GYS1, PDGFRA, NCF2, TAF1, AP1S1, CLPB, ACADVL, ADCY5, SPATA5, MATR3, PLIN1, QARS, TTR, FLNC, KCNJ11, GNA11, GJA1, DYSF, MYH3, INF2, SGCA, MECP2, CASR, GCK, PYGM, PYCR2, TUBB2A, HADHB, DCC, NDUFS1, VCP, ATP1A3, SLC25A4, COASY, SIL1, TUBB3, MUSK, DDOST, PNPT1, SUMF1, LCK, GLE1, FLNA, BIN1, HSD17B4, ENTPD1, CASK, PRKACA, INSR, SLC25A32, MARS, MYH8, L1CAM, OPA1, RET, PEX19, HACE1, RARS2, MYH11, CHKB, MTRR, PIK3R1

MULTIPLE ENDOCRINE NEOPLASIA IIB, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?MICROHYDRANENCEPHALY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, MENTAL RETARDATION, X-LINKED 102, IMMUNODEFICIENCY 44, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, MYOFIBRILLAR, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, WELANDER DISTAL MYOPATHY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ARTS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, GLYCOGEN STORAGE DISEASE IA, ARTHROGRYPOSIS, DISTAL, TYPE 2A, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOPATHY, MYOFIBRILLAR, 4, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, SENGERS SYNDROME, CORNELIA DE LANGE SYNDROME 5, ?SPINOCEREBELLAR ATAXIA 34, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, OGDEN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, COENZYME Q10 DEFICIENCY, PRIMARY, 3, LATERAL MENINGOCELE SYNDROME, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, LIVER FAILURE, TRANSIENT INFANTILE, MENTAL RETARDATION, X-LINKED 98, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, D-BIFUNCTIONAL PROTEIN DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 4, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, AMYOTROPHIC LATERAL SCLEROSIS 11, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, NEU-LAXOVA SYNDROME 2, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, SHPRINTZEN-GOLDBERG SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MYOPATHY, MYOFIBRILLAR, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), LEGIUS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, BRITTLE CORNEA SYNDROME 2, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, ?GLYCOGEN STORAGE DISEASE XV, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CEROID LIPOFUSCINOSIS, NEURONAL, 3, ?SPASTIC PARAPLEGIA 63, LYMPHEDEMA, HEREDITARY, ID, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, GABA-TRANSAMINASE DEFICIENCY, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CPT II DEFICIENCY, LETHAL NEONATAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, WARBURG MICRO SYNDROME 3, GLYCOGEN STORAGE DISEASE IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, NEPHROTIC SYNDROME, TYPE 9, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, 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, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, ?MENTAL RETARDATION, X-LINKED 91, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, CENTRONUCLEAR MYOPATHY 5, SHORT SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 10, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, LOEYS-DIETZ SYNDROME 5, MYOTONIC DYSTROPHY 1, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, GLYCOGEN STORAGE DISEASE IXC, BANNAYAN-RILEY-RUVALCABA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, MYOTONIC DYSTROPHY 2, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, HYPOMAGNESEMIA 1, INTESTINAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SINGLETON-MERTEN SYNDROME 2, MCKUSICK-KAUFMAN SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MCARDLE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MYOPATHY, MYOFIBRILLAR, 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYHRE SYNDROME, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 3, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MULTIPLE SULFATASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, TRANSALDOLASE DEFICIENCY, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COENZYME Q10 DEFICIENCY, PRIMARY, 7, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COENZYME Q10 DEFICIENCY, PRIMARY, 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MUSCLE GLYCOGENOSIS, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 36, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, FUMARASE DEFICIENCY, POLYGLUCOSAN BODY MYOPATHY 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, CHANARIN-DORFMAN SYNDROME, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ?MYOFIBROMATOSIS, INFANTILE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SCHAAF-YANG SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, MYOPATHY DUE TO CPT II DEFICIENCY, CARDIOMYOPATHY, DILATED, 1X, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, ?GLYCOGEN STORAGE DISEASE XIII, ?MYOPATHY, SCAPULOHUMEROPERONEAL, 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, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, NONAKA MYOPATHY

PLOD3, CLN3, VARS2, SLC34A1, GPT2, CUL3, COL3A1, KRIT1, UBA1, GLYCTK, FH, AGK, TTN, G6PC, POMGNT1, WNK1, GTPBP3, TRMT5, CTNNB1, PHKB, APOA1, AR, ENO3, THRA, DAG1, ABAT, CD27, MRE11A, AIFM1, CBL, SUCLA2, SPEG, VEGFC, NDUFA10, GAMT, MT-CO1, CAV3, BANF1, ALDOA, OAT, RBM28, PRPS1, LIAS, SMAD4, CHST14, RAD51, GYS1, CTDP1, PPP2R1A, PNKP, TPI1, AIP, LRPPRC, HDAC8, NPHS1, TRMU, COX15, KIF11, SOD1, GNE, PEX5, XRCC4, MUSK, KIAA2022, ADK, CUL4B, FGF23, HINT1, HNRNPK, PIGN, PIK3R2, PTPN11, GMPPA, HADHB, MT-CO2, PDSS1, NDUFS4, TPK1, FMR1, FKTN, FKRP, B4GALT1, ZMPSTE24, GRIN2B, PHKA1, POMK, ATXN3, SARS2, PRDM5, DMPK, SKI, B3GALNT2, TRIM32, KMT2A, CPT2, PGK1, MOCS2, ACY1, MYH7, HADH, TRPM6, BAG3, DES, ARHGDIA, USP8, GATM, GNAI2, FIG4, NDE1, NOTCH1, FGFR1, MEF2C, UBR1, CFL2, SGCG, EXOSC8, KIF5C, GK, EARS2, MYOM1, KLC2, SYT2, HARS, RAB18, BRAF, KAT6A, DMD, NCF1, UBE2A, VRK1, FLT4, CHAT, SNIP1, MRPS16, GMPPB, TAZ, B4GALNT1, TRIM2, SMC1A, DMGDH, VDR, HK1, FARS2, COQ4, KCNH1, SCYL1, DLG3, AIMP1, TBCK, B3GAT3, TGFB1, TYMP, PIP5K1C, VCP, MTR, HADHA, ADCK4, DNMT1, CRYAB, PCNA, ISPD, PMPCA, ALDH18A1, HSPG2, NLRP3, C10orf2, LMNA, F2, KIF5A, SQSTM1, AP2S1, AGT, CDK5, MAGEL2, SMN2, NADK2, PIGC, LIPE, PNPLA2, NOP56, PIK3CA, LTBP4, ABCA1, NAA10, TBK1, ZDHHC15, NUBPL, ACTA1, DNM1, GBE1, NDUFAF6, CDKL5, NOS3, TIA1, GATA2, ADCK3, GFPT1, HGSNAT, LRSAM1, TALDO1, PFKM, TNFRSF1A, TMEM173, RPS6KA3, ACVR1, INS, EEF1A2, DDX3X, HSD17B10, SDHD, MKKS, LMX1B, CNTN1, TXN2, BICD2, BCS1L, FKBP14, TUBB3, PSAP, COQ2, MTFMT, FBN1, DNA2, POLD1, MTAP, DPM2, TRPM7, ACADSB, PTEN, F13A1, POLG2, STAT2, TK2, FAH, NRAS, SPRED1, PDSS2, STAMBP, DPM1, PHKG2, MED25, PANK2, WAS, POMT1, RBCK1, HERC2, SUCLG1, STRADA, UCHL1, F10, FASTKD2, POLG, NDUFAF5, AGPAT2, TRIM37, TUFM, PRDM8, CAV1, PRPH, PIGT, DNM2, GLB1, PPARG, AGL, HIBCH, SLC35A2, BTK, IBA57, NEU1, ALG2, PDGFRB, XYLT2, EMD, PIGG, ABHD5, KRAS, CHKB, TPM3, TRMT10A, GYG1, MARS, POMGNT2, MRPL44, AGRN, NSUN2, ELOVL4, TAF1, AP1S1, CLPB, POMT2, NOTCH3, NDST1, GALNT14, PLIN1, TTR, RET, GJA1, MYH3, LDHA, SGCA, MECP2, TGFB3, CASR, GCK, PYGM, PYCR2, DCC, NDUFS1, DDX58, NEFL, SLC25A4, ITGA7, COASY, PSAT1, LDB3, DDOST, PNPT1, SUMF1, LCK, GLE1, FLNA, BIN1, SMS, HSD17B4, FLNC, CASK, EXT2, PRKACA, INSR, PACS1, CPT1A, PDGFRA, L1CAM, CNBP, ATP5A1, DPAGT1, PEX19, HACE1, ACO2, AMPD2, MYH11, B4GAT1, COX10, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, BARTTER SYNDROME, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, 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, EPISODIC ATAXIA/MYOKYMIA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, TRANSALDOLASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, MYOPATHY, TUBULAR AGGREGATE, 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, STORMORKEN SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, CORPUS CALLOSUM, PARTIAL AGENESIS OF, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAPOS SYNDROME, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, FANCONI RENOTUBULAR SYNDROME 2, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MYOPATHY, TUBULAR AGGREGATE, 2, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, KEPPEN-LUBINSKY SYNDROME, HYPOMAGNESEMIA 2, RENAL, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, TIMOTHY SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, NEPHROTIC SYNDROME, TYPE 2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, HYPEREKPLEXIA 3, EPISODIC ATAXIA, TYPE 6, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, HYPOKALEMIC PERIODIC PARALYSIS 1, IMMUNODEFICIENCY 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), BECKER MUSCULAR DYSTROPHY, HYPOMAGNESEMIA 1, INTESTINAL, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MYASTHENIC SYNDROME, CONGENITAL, 16, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, NAIL-PATELLA SYNDROME, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, GLYCOGEN STORAGE DISEASE XI, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, DISTAL, 4, HYPERALDOSTERONISM, FAMILIAL, TYPE III, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 3, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, IMMUNODEFICIENCY 9, ?MYASTHENIC SYNDROME, CONGENITAL, 18, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

LCK, KIF5C, CAV3, KCNJ5, STIM1, KCNH1, SLC6A5, SQSTM1, KCNJ6, CTNNB1, CDK5, AIMP1, SLC34A1, ATP2B3, SLC12A6, CLDN16, LDHA, NALCN, SLC34A3, TGFB1, SLC39A8, NOS3, LMX1B, ATP2A1, CAV1, SLC39A13, CNTN1, RYR1, FGFR1, SLC9A6, CASK, CACNA1C, CHRNE, KCNJ11, TNFRSF1A, FLNA, SCN9A, SCN11A, SCN4A, HERC2, GJA1, ORAI1, VCP, KCNA1, TRPM6, ABCC9, ANK3, SUCLA2, KCNJ1, L1CAM, TALDO1, ATP1A3, GRIN2B, GRM1, FLNC, PTPN11, SCN8A, NPHS2, CACNA1S, TRPM7, DAG1, KCNT1, PRKACA, PTEN, SLC1A3, TRPV4, PCNA, CAPN3, AGT, FXYD2, SLC1A4, MAFB, INS, ABCC8, SNAP25, CTSD, SLC13A5, DMD

CAMURATI-ENGELMANN DISEASE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, NEPHROTIC SYNDROME, TYPE 9, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 102, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, 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, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 4, MACHADO-JOSEPH DISEASE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, WELANDER DISTAL MYOPATHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, COWCHOCK SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, LYMPHEDEMA, HEREDITARY, IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SHPRINTZEN-GOLDBERG SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, 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, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?IMMUNODEFICIENCY 22, BARTH SYNDROME, MUSCLE GLYCOGENOSIS, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SPINOCEREBELLAR ATAXIA 36, NEPHROTIC SYNDROME, TYPE 8, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, CENTRONUCLEAR MYOPATHY 5, MUCKLE-WELLS SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 2, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, EMBERGER SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, MEDNIK SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, TYROSINEMIA, TYPE I, FUMARASE DEFICIENCY, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, OCULOECTODERMAL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MIRROR MOVEMENTS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, GLYCOGEN STORAGE DISEASE IXC, ARTHROGRYPOSIS, DISTAL, TYPE 2A, BANNAYAN-RILEY-RUVALCABA SYNDROME, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, TANGIER DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MIRROR MOVEMENTS 1, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, HYPOMAGNESEMIA 1, INTESTINAL, OGDEN SYNDROME, GLYCOGEN STORAGE DISEASE VII, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NAIL-PATELLA SYNDROME, INFANTILE MYOFIBROMATOSIS 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, KOSAKI OVERGROWTH SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MYOPATHY, MYOFIBRILLAR, 2, LYMPHEDEMA, HEREDITARY, ID, MYHRE SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MARFAN LIPODYSTROPHY SYNDROME, FACTOR XIIIA DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AU-KLINE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

SLC34A1, CAV1, ADCK3, SOD1, NOP56, NAA10, SQSTM1, AP2S1, F2, KRIT1, AGT, POLD1, PPARG, CDK5, CTNNB1, BTK, TRPM6, FH, DNM2, DES, TRPM7, PIK3CA, WNK1, LTBP4, ARHGDIA, PDGFRB, MYH3, TBK1, GNAI2, MUSK, ACTA1, AIFM1, DNM1, KRAS, CDKL5, AR, NOS3, TIA1, GATA2, FGFR1, MEF2C, SNIP1, CFL2, ABCA1, SUCLG1, KIF5C, CBL, EARS2, SPRED1, SPEG, CRYAB, EEF1A2, VEGFC, AP1S1, TNFRSF1A, PCNA, RPS6KA3, WAS, BRAF, INS, PLIN1, CAV3, BANF1, PFKM, DDX3X, AGL, GJA1, VRK1, SMAD4, PHKB, FLT4, TAF1, MECP2, LMX1B, TAZ, CTDP1, BICD2, PPP2R1A, GRIN2B, F10, SMC1A, BIN1, VDR, VCP, RAD51, FBN1, NCF1, KIF11, TTN, PTEN, F13A1, KCNH1, SCYL1, FAH, LCK, FLNA, PSAP, HNRNPK, TBCK, PIK3R2, PHKG2, PTPN11, TGFB1, CASK, ACVR1, PRKACA, INSR, NOTCH1, ADCK4, LIPE, DNMT1, PACS1, FASTKD2, PDGFRA, L1CAM, STRADA, RET, PHKA1, POMK, DCC, ATXN3, NLRP3, SKI, DMPK, PIK3R1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, MULTIPLE ENDOCRINE NEOPLASIA IIB, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, IMMUNODEFICIENCY 44, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, LEBER OPTIC ATROPHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, MYOFIBRILLAR, 5, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, EMBERGER SYNDROME, WELANDER DISTAL MYOPATHY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ARTS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MIRROR MOVEMENTS 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SENGERS SYNDROME, BARTTER SYNDROME, TYPE 4B, DIGENIC, ?AL-GAZALI-BAKALINOVA SYNDROME, OGDEN SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, HYPOMAGNESEMIA 6, RENAL, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LIVER FAILURE, TRANSIENT INFANTILE, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, COLE DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 4, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), FUMARASE DEFICIENCY, PITT-HOPKINS SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHOREOACANTHOCYTOSIS, SHPRINTZEN-GOLDBERG SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MULIBREY NANISM, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACETYL-COA CARBOXYLASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), LEGIUS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, OPTIC ATROPHY PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, NEPHROTIC SYNDROME, TYPE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, ?MYASTHENIC SYNDROME, CONGENITAL, 18, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 9, LEUKODYSTROPHY, HYPOMYELINATING, 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, GLYCOGEN STORAGE DISEASE 0, MUSCLE, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, BRODY MYOPATHY, GLYCOGEN STORAGE DISEASE IV, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, COCKAYNE SYNDROME, TYPE B, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, 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, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, CENTRONUCLEAR MYOPATHY 5, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI RENOTUBULAR SYNDROME 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, OSSEOUS HETEROPLASIA, PROGRESSIVE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOTONIC DYSTROPHY 1, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, MYOTONIA CONGENITA, DOMINANT, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, GLYCOGEN STORAGE DISEASE IXC, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TANGIER DISEASE, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, HYPOMAGNESEMIA 1, INTESTINAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, SINGLETON-MERTEN SYNDROME 2, MCKUSICK-KAUFMAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, MYOFIBRILLAR, 2, BARTTER SYNDROME, TYPE 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYHRE SYNDROME, MYOTONIA CONGENITA, RECESSIVE, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SHORT SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA, X-LINKED 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPINOCEREBELLAR ATAXIA 36, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, 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, MENTAL RETARDATION, X-LINKED 90, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, WARBURG MICRO SYNDROME 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, NONAKA MYOPATHY

PEX5, SLC34A1, TUBB2A, AGK, CAV1, SQSTM1, FGFR1, MYH14, GLYCTK, VARS2, SOD1, ATP2B3, ITPA, CNBP, SPATA5, IFIH1, GNA11, KIF1C, BANF1, CUL3, MOCS2, COASY, PEX6, AP2S1, CARS2, ATP6V1B2, AGT, POLD1, VPS53, GCK, PPARG, INSR, CDK5, OAT, CASR, SCN8A, DNAH14, YARS2, ACY1, MCCC2, UBE2A, BTK, NADK2, IGHMBP2, F2, NRAS, CBL, FMR1, NDUFS2, FH, TRIM32, NOP56, TRPM7, PIK3CA, PTPN11, WNK1, AARS, NLRC4, HTR1A, QARS, AFG3L2, RNASEH1, HNRNPA1, ABCA1, PDGFRB, FLT4, SMAD4, MYH3, ARHGDIA, PRKAG2, KIF7, MRE11A, GNAI2, CTNNB1, MARS2, KIF1A, MUSK, NUBPL, ACTA1, AIFM1, DNM1, INF2, KRIT1, SUCLA2, MYOM1, ACVR1, GBE1, NLRP12, APOA1, GK, SLC22A5, CDKL5, TBK1, AR, GMPPB, POMK, NDUFA1, PGK1, NOS3, THRA, KCNJ1, TIA1, PIGT, GATA2, GPI, MEF2C, CASK, KCNJ11, MECP2, CFL2, DDOST, ARFGEF2, GFPT1, SGCG, EXOSC8, KIF5C, LMX1B, MEGF10, PSMB8, AARS2, MRPL44, SPRED1, NSUN2, TPM2, PNPLA8, EARS2, GNAS, SPEG, DNM1L, MYH8, EEF1A2, TGFB1, MKKS, AP1S1, CLCN1, GTPBP3, TMEM173, MT-CYB, ABCD4, TAZ, KRAS, ADK, RAB18, OPA1, BIN1, PANK2, CNTN1, STAMBP, TUFM, ADCY5, NDUFA10, INS, ABCC8, MOCS1, CTSD, PLIN1, DHFR, CAV3, TTR, ATL1, DDX3X, AP4B1, AGL, BICD2, GJA1, PRPS1, PEX1, KAT6A, C2, HK1, HSD17B10, PHKB, LDHA, DARS2, CUL4B, SGCA, TAF1, SNIP1, BVES, PPP2R1A, GYS1, PFKM, FLNA, IARS2, CTDP1, SIL1, DMD, NARS2, PNKP, BCS1L, RAPSN, GRIN2B, NAA10, TRIM2, TNFRSF1A, SSR4, VPS11, SMC1A, TUBB3, PSAP, TPI1, VDR, HACE1, ACACA, UBA1, DDX58, RAD51, WAS, NPHS1, MYH2, ATP5A1, SLC25A4, TRMU, ADCK3, DCTN1, HNRNPK, DNA2, RARS2, NCF1, KIF11, BSND, HARS, MCCC1, TTN, ACADSB, GNE, CNNM2, PTEN, TRPV4, CLCNKA, GCLC, CLCNKB, BRAF, STAT2, TK2, PNPT1, RBM28, DYNC1H1, ERCC6, NDUFS1, SCYL1, FAH, LCK, AIP, GLE1, MYO1E, KIF21A, DLG3, SUCLG1, FGF23, SETX, AIMP1, MYH7, VPS13A, TBCK, NOTCH1, HSD17B4, TARDBP, FLNC, PIK3R2, DNM2, PHKG2, NONO, ENTPD1, MYO18B, APTX, RPS6KA3, PIP5K1C, VCP, VRK1, PDGFRA, ABCG5, RARS, NLRP3, MT-CO2, PCNA, NLRP5, TCF4, MED25, FARS2, ENPP1, CLPB, TPK1, LIPE, TRPM6, TRIM37, MARS, ABCC9, ATP2A1, CRYAB, L1CAM, STRADA, KIF5A, ATP1A3, RET, TARS2, PEX19, SNAP25, F10, LAMA2, DCC, POLG, ATXN3, DAG1, SARS2, PRKACA, MYH11, ALDH18A1, CHKB, PIK3R1, C10orf2, LARS, MTRR, SMN2, DMPK, SKI

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, GLYCOGEN STORAGE DISEASE IV, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, AICARDI-GOUTIERES SYNDROME 7, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULIBREY NANISM, SHORT SYNDROME, 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, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AMINOACYLASE 1 DEFICIENCY, ?AL-GAZALI-BAKALINOVA SYNDROME, 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, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, MANDIBULOACRAL DYSPLASIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, 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, 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, CEREBROOCULOFACIOSKELETAL SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, SPINOCEREBELLAR ATAXIA 36, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, 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, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, 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, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MALOUF SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, ACETYL-COA CARBOXYLASE DEFICIENCY, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, HYPOMAGNESEMIA 2, RENAL, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, AL-RAQAD SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, PSEUDOHYPOALDOSTERONISM, TYPE 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), MUSCULAR DYSTROPHY, CONGENITAL, 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, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FRAGILE X TREMOR/ATAXIA SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOTONIC DYSTROPHY 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, 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, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GLYCOGEN STORAGE DISEASE VII, WIEDEMANN-STEINER SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, PITUITARY DEPENDENT HYPERCORTISOLISM, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, LIANG DISTAL MYOPATHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ARTHROGRYPOSIS, DISTAL, TYPE 2A, 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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, BRODY MYOPATHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

LMNA, TRIM32, CAV1, MYH14, ATP2B3, CNBP, IFIH1, KIF1C, CUL3, PEX6, AP2S1, ATP6V1B2, AP4B1, CDK5, DNAH14, ACY1, GJA1, MYH7, MYO1E, ERCC6, DNM2, NOP56, PIK3CA, HNRNPA1, PDGFRB, MYH3, ARHGDIA, MRE11A, GNAI2, CTNNB1, KIF1A, PEX5, ACTA1, DNM1, ACVR1, KRAS, APOA1, CBL, KIF21A, PGK1, NOS3, ATP2A1, PIGT, KIF5A, SQSTM1, ABCA1, EXOSC8, KIF5C, MEGF10, ITPA, C2, TPM2, TNNT1, FMR1, ATL1, TAF1, ERCC5, GTPBP3, ABCD4, KRIT1, RAB18, OPA1, AGT, WAS, BRAF, INS, ABCC8, SNAP25, EEF1A2, DDX3X, OAT, UBE2A, DCPS, SMAD4, LDHA, RAD51, KLC2, GMPPB, CASR, CTSD, GNA11, SSR4, SMC1A, TUBB3, GBE1, TUBB2A, DCC, ACACA, DDX58, MYH2, ATP5A1, DCTN1, DNA2, KIF11, NONO, DDOST, DYNC1H1, PFKM, PEX1, AR, FLNA, SETX, IGHMBP2, VPS13A, DNM1L, HSD17B4, LAMA2, ABCG5, PIK3R2, ENTPD1, MYO18B, VCP, TGFB1, CASK, FXYD2, PCNA, INSR, NOTCH1, ENPP1, KIF7, TRIM37, ABCC9, MYH8, GNAS, ATP1A3, GRIN2B, PEX19, PTEN, HACE1, MYH11, NDUFS2, C10orf2, TUFM, PIK3R1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, MULTIPLE ENDOCRINE NEOPLASIA IIB, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 19, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, ?MICROHYDRANENCEPHALY, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, IMMUNODEFICIENCY 44, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, LEBER OPTIC ATROPHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, MYOFIBRILLAR, 5, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, EMBERGER SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WELANDER DISTAL MYOPATHY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), ARTS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MIRROR MOVEMENTS 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SENGERS SYNDROME, ?AL-GAZALI-BAKALINOVA SYNDROME, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, OGDEN SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, LATERAL MENINGOCELE SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, OSTEOGENESIS IMPERFECTA, TYPE XVII, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, LIVER FAILURE, TRANSIENT INFANTILE, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, COLE DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), FUMARASE DEFICIENCY, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHOREOACANTHOCYTOSIS, SHPRINTZEN-GOLDBERG SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MULIBREY NANISM, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 1, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), LEGIUS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, OPTIC ATROPHY PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, NEPHROTIC SYNDROME, TYPE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, ?MYASTHENIC SYNDROME, CONGENITAL, 18, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CEROID LIPOFUSCINOSIS, NEURONAL, 3, LEUKODYSTROPHY, HYPOMYELINATING, 9, LYMPHEDEMA, HEREDITARY, ID, LEUKODYSTROPHY, HYPOMYELINATING, 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, GLYCOGEN STORAGE DISEASE 0, MUSCLE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, FACTOR XIIIA DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, BRODY MYOPATHY, GLYCOGEN STORAGE DISEASE IV, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, COCKAYNE SYNDROME, TYPE B, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, ANGIOEDEMA, HEREDITARY, TYPE III, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, 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, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, PORETTI-BOLTSHAUSER SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, CAPOS SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, FRONTOMETAPHYSEAL DYSPLASIA, CENTRONUCLEAR MYOPATHY 5, FANCONI RENOTUBULAR SYNDROME 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, OSSEOUS HETEROPLASIA, PROGRESSIVE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, FACTOR VII DEFICIENCY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOTONIC DYSTROPHY 1, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, GLYCOGEN STORAGE DISEASE IXC, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TANGIER DISEASE, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, HYPOMAGNESEMIA 1, INTESTINAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, SINGLETON-MERTEN SYNDROME 2, MCKUSICK-KAUFMAN SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, MYOFIBRILLAR, 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYHRE SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ?MYASTHENIC SYNDROME, CONGENITAL, 17, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SHORT SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPINOCEREBELLAR ATAXIA 36, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, IVIC SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, OSTEOGENESIS IMPERFECTA, TYPE XIII, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ?MYOFIBROMATOSIS, INFANTILE 2, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MENTAL RETARDATION, X-LINKED 90, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, WARBURG MICRO SYNDROME 3, ?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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, NONAKA MYOPATHY

FGFR1, CLN3, VARS2, SOD1, CUL3, COL3A1, KRIT1, ENPP1, HNRNPDL, UBA1, NLRP12, KIF7, ITGA3, FH, TRIM32, TTN, WNK1, TNXB, MYO18B, WWOX, NONO, PHKB, IFIH1, F13A1, APOA1, KIF21A, GNAS, THRA, C2, DAG1, LAMA1, SPRED1, MRE11A, AIFM1, CBL, KCNJ1, SUCLA2, SPEG, VEGFC, MT-CYB, ABCD4, NDUFA1, NDUFA10, CAV3, BANF1, ALDOA, OAT, RBM28, PRPS1, NRAS, SMAD4, RAD51, GYS1, IARS2, CTDP1, CTSD, NARS2, PPP2R1A, PNKP, AIP, DNAH14, TANGO2, NPHS1, TRMU, VPS13A, KIF11, GNE, PEX5, GLYCTK, ADK, CUL4B, FGF23, HNRNPK, PIK3R2, LAMA2, PTPN11, DMPK, VPS11, TPK1, LIPE, NLRP5, ERCC6, GRIN2B, CTCF, KAT6A, POMK, ATXN3, SARS2, RARS, NDUFS2, FSHB, AGK, SMN2, LARS, NAA10, MT-CO2, KIF1C, PGK1, MOCS2, COL1A2, AP4B1, ASCC1, ACY1, MCCC2, UBE2A, MYH7, MYO1E, BAG3, DES, ARHGDIA, CAPN3, AARS2, KIF1A, LDHA, NDE1, NOTCH1, ATP2A1, GPI, MEF2C, CFL2, SGCG, EXOSC8, KIF5C, DHFR, GK, EARS2, MYOM1, HARS, NLRC4, RAB18, BRAF, SNAP25, DMD, NCF1, BMP1, VRK1, DARS2, FLT4, GRM1, SNIP1, GMPPB, TAZ, SMC1A, GBE1, VDR, ITPA, HK1, BVES, FARS2, GCLC, DYNC1H1, SCYL1, NDUFV1, PEX1, AR, DLG3, SETX, AIMP1, SLC12A6, TBCK, ABCG5, PIP5K1C, VCP, DNMT1, CRYAB, PCNA, ATP1A3, KIF1BP, ALDH18A1, HSPG2, NLRP3, SKI, C10orf2, SLC34A1, F2, ADCK3, MYH14, F7, SQSTM1, PEX6, AP2S1, CARS2, ATP6V1B2, AGT, VPS53, CDK5, LRP4, NADK2, IGHMBP2, FMR1, SALL4, NOP56, PIK3CA, LTBP4, HNRNPA1, ABCA1, TBK1, PRKAG2, MYH2, NUBPL, ACTA1, DNM1, ACVR1, PLEC, HTR1A, CDKL5, NOS3, TIA1, GATA2, KIF5A, GFPT1, PSMB8, APTX, PNPLA8, DNM1L, SPARC, PFKM, DSE, TNFRSF1A, GTPBP3, TMEM173, RPS6KA3, WAS, INS, ABCC8, ATL1, EEF1A2, YARS2, HSD17B10, SLC22A5, MKKS, LMX1B, CNTN1, BICD2, BCS1L, RAPSN, LTBP2, TUBB3, PSAP, CYBB, ACACA, ATP5A1, DCTN1, DNA2, POLD1, MCCC1, TRPM7, ACADSB, PTEN, TRPV4, STAT2, TK2, FAH, SSR4, PHKG2, MED25, PANK2, ANK3, TGFB1, STAMBP, TCF4, TRPM6, HERC2, SUCLG1, ABCC9, STRADA, UCHL1, TARS2, F12, MOCS1, F10, POLG, TRIM37, TUFM, CAV1, ATP2B3, CNBP, PIGT, DNM2, DDX3X, RNASEH1, PPARG, COL5A1, AGL, HIBCH, CTNNB1, BTK, MARS2, SCN8A, AARS, AFG3L2, COL13A1, PDGFRB, CECR1, EMD, KRAS, RYR1, TARDBP, ARFGEF2, MEGF10, GNAI2, MRPL44, AGRN, NSUN2, TPM2, MYH8, TAF1, AP1S1, CLPB, NOTCH3, ADCY5, SPATA5, PLIN1, QARS, TTR, FLNC, KCNJ11, GNA11, GJA1, DYSF, MYH3, COL4A1, INF2, SGCA, MECP2, CASR, GCK, TRIM2, FBLN5, TUBB2A, DCC, NDUFS1, DDX58, NEFL, SLC25A4, COASY, SIL1, MUSK, DDOST, PNPT1, LCK, GLE1, FLNA, BIN1, FHL1, HSD17B4, PTRF, ENTPD1, GLB1, CASK, EXT2, PRKACA, INSR, MARS, GLA, PDGFRA, L1CAM, OPA1, FBN1, RET, PEX19, HACE1, RARS2, MYH11, CHKB, MTRR, PIK3R1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, GLYCOGEN STORAGE DISEASE IV, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, AICARDI-GOUTIERES SYNDROME 7, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MULIBREY NANISM, SHORT SYNDROME, 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, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AMINOACYLASE 1 DEFICIENCY, ?AL-GAZALI-BAKALINOVA SYNDROME, 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, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, MANDIBULOACRAL DYSPLASIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, 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, 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, CEREBROOCULOFACIOSKELETAL SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, SPINOCEREBELLAR ATAXIA 36, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, 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, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, 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, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MALOUF SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, ACETYL-COA CARBOXYLASE DEFICIENCY, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, HYPOMAGNESEMIA 2, RENAL, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, AL-RAQAD SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, PSEUDOHYPOALDOSTERONISM, TYPE 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), MUSCULAR DYSTROPHY, CONGENITAL, 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, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FRAGILE X TREMOR/ATAXIA SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOTONIC DYSTROPHY 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, 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, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GLYCOGEN STORAGE DISEASE VII, WIEDEMANN-STEINER SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, PITUITARY DEPENDENT HYPERCORTISOLISM, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, LIANG DISTAL MYOPATHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ARTHROGRYPOSIS, DISTAL, TYPE 2A, 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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, BRODY MYOPATHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

LMNA, TRIM32, CAV1, MYH14, ATP2B3, CNBP, IFIH1, KIF1C, CUL3, PEX6, AP2S1, ATP6V1B2, AP4B1, CDK5, DNAH14, ACY1, GJA1, MYH7, MYO1E, ERCC6, DNM2, NOP56, PIK3CA, HNRNPA1, PDGFRB, MYH3, ARHGDIA, MRE11A, GNAI2, CTNNB1, KIF1A, PEX5, ACTA1, DNM1, ACVR1, KRAS, APOA1, CBL, KIF21A, PGK1, NOS3, ATP2A1, PIGT, KIF5A, SQSTM1, ABCA1, EXOSC8, KIF5C, MEGF10, ITPA, C2, TPM2, TNNT1, FMR1, ATL1, TAF1, ERCC5, GTPBP3, ABCD4, KRIT1, RAB18, OPA1, AGT, WAS, BRAF, INS, ABCC8, SNAP25, EEF1A2, DDX3X, OAT, UBE2A, DCPS, SMAD4, LDHA, RAD51, KLC2, GMPPB, CASR, CTSD, GNA11, SSR4, SMC1A, TUBB3, GBE1, TUBB2A, DCC, ACACA, DDX58, MYH2, ATP5A1, DCTN1, DNA2, KIF11, NONO, DDOST, DYNC1H1, PFKM, PEX1, AR, FLNA, SETX, IGHMBP2, VPS13A, DNM1L, HSD17B4, LAMA2, ABCG5, PIK3R2, ENTPD1, MYO18B, VCP, TGFB1, CASK, FXYD2, PCNA, INSR, NOTCH1, ENPP1, KIF7, TRIM37, ABCC9, MYH8, GNAS, ATP1A3, GRIN2B, PEX19, PTEN, HACE1, MYH11, NDUFS2, C10orf2, TUFM, PIK3R1

LYSYL HYDROXYLASE 3 DEFICIENCY, ?GLYCOGEN STORAGE DISEASE XV, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GM1-GANGLIOSIDOSIS, TYPE III, MYOPATHY, MYOFIBRILLAR, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INFANTILE MYOFIBROMATOSIS 1, POLYGLUCOSAN BODY MYOPATHY 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MCARDLE DISEASE, NON-IMMUNE HYDROPS FETALIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, OCULOECTODERMAL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, SPONDYLOOCULAR SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, GLYCOGEN STORAGE DISEASE IV, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, MYOPATHY, MYOFIBRILLAR, 2, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, GLYCOGEN STORAGE DISEASE 0, MUSCLE, ?MYOFIBROMATOSIS, INFANTILE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, AGAMMAGLOBULINEMIA, X-LINKED 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LATERAL MENINGOCELE SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11

B3GALNT2, DPAGT1, GLB1, AGL, PPARG, GBE1, SDHD, PRPH, POMT1, DPM1, B3GAT3, TGFB1, PGK1, NOTCH1, B4GALT1, GALNT14, PLOD3, B4GAT1, PYGM, B4GALNT1, TYMP, GYG1, KRAS, BTK, PIGC, VCP, GYS1, CRYAB, ZMPSTE24, NEU1, DES, ALG2, POMGNT1, MTAP, DPM2, POMT2, NOTCH3, MYH11, XYLT2, HSPG2, EXT2, DDOST, POMGNT2, INS, TUFM

GLYCOGEN STORAGE DISEASE IV, NON-IMMUNE HYDROPS FETALIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, MANNOSIDOSIS, BETA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GLYCOGEN STORAGE DISEASE II, GM2-GANGLIOSIDOSIS, AB VARIANT, MUSCLE GLYCOGENOSIS, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, KANZAKI DISEASE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, NONAKA MYOPATHY

NCF1, BANF1, NEU1, F2, AGL, GBE1, PHKB, TGFB1, CTCF, HEXB, B4GALT1, CAV1, NAGA, AGT, GLB1, NOS3, MANBA, GM2A, GLA, GBA2, MARS2, PHKA1, NOTCH1, GUSB, GNE, HSPG2, BRAF, GAA

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, SHORT SYNDROME, 2-METHYLBUTYRYLGLYCINURIA, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4

ACADSB, ACAD9, ACADVL, ACADS, MT-CO2, TUFM, PIK3R1

LYSYL HYDROXYLASE 3 DEFICIENCY, ?GLYCOGEN STORAGE DISEASE XV, GLYCOGEN STORAGE DISEASE IV, NON-IMMUNE HYDROPS FETALIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, POLYGLUCOSAN BODY MYOPATHY 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MCARDLE DISEASE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, OCULOECTODERMAL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, SPONDYLOOCULAR SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, GLYCOGEN STORAGE DISEASE 0, MUSCLE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, AGAMMAGLOBULINEMIA, X-LINKED 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11

B3GALNT2, SDHD, GLB1, AGL, PLOD3, KRAS, XYLT2, POMT1, DPM1, B3GAT3, NOTCH1, B4GALT1, GALNT14, PPARG, B4GAT1, PYGM, B4GALNT1, TYMP, MTAP, GBE1, BTK, PIGC, VCP, GYS1, ZMPSTE24, NEU1, ALG2, POMGNT1, GYG1, DPM2, POMT2, HSPG2, EXT2, DDOST, POMGNT2

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, MULTIPLE ENDOCRINE NEOPLASIA IIB, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, IMMUNODEFICIENCY 44, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, MYOFIBRILLAR, 5, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, WELANDER DISTAL MYOPATHY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ARTS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, HYPOKALEMIC PERIODIC PARALYSIS 1, SENGERS SYNDROME, BARTTER SYNDROME, TYPE 4B, DIGENIC, ?AL-GAZALI-BAKALINOVA SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, OGDEN SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, MYASTHENIC SYNDROME, CONGENITAL, 16, HYPOMAGNESEMIA 6, RENAL, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, COENZYME Q10 DEFICIENCY, PRIMARY, 3, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LIVER FAILURE, TRANSIENT INFANTILE, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, COLE DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), FUMARASE DEFICIENCY, PITT-HOPKINS SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 12/35, SHPRINTZEN-GOLDBERG SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 1, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), LEGIUS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, OPTIC ATROPHY PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, NEPHROTIC SYNDROME, TYPE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, ?MYASTHENIC SYNDROME, CONGENITAL, 18, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 9, LEUKODYSTROPHY, HYPOMYELINATING, 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, BRODY MYOPATHY, GLYCOGEN STORAGE DISEASE IV, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, COCKAYNE SYNDROME, TYPE B, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, 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, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, CAPOS SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, FRONTOMETAPHYSEAL DYSPLASIA, CENTRONUCLEAR MYOPATHY 5, CHOREOACANTHOCYTOSIS, FANCONI RENOTUBULAR SYNDROME 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, OSSEOUS HETEROPLASIA, PROGRESSIVE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOTONIC DYSTROPHY 1, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, KOSAKI OVERGROWTH SYNDROME, MYOTONIA CONGENITA, DOMINANT, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, GLYCOGEN STORAGE DISEASE IXC, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, HYPOMAGNESEMIA 1, INTESTINAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, SINGLETON-MERTEN SYNDROME 2, MCKUSICK-KAUFMAN SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MCARDLE DISEASE, MYOPATHY, MYOFIBRILLAR, 2, BARTTER SYNDROME, TYPE 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, D-2-HYDROXYGLUTARIC ACIDURIA, MYHRE SYNDROME, MYOTONIA CONGENITA, RECESSIVE, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, MULTIPLE SULFATASE DEFICIENCY, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SHORT SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), VLCAD DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPINOCEREBELLAR ATAXIA 36, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MENTAL RETARDATION, X-LINKED 90, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1G, WARBURG MICRO SYNDROME 3, ?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, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, NONAKA MYOPATHY

FGFR1, VARS2, SLC34A1, ACADS, CUL3, KRIT1, ENPP1, HNRNPDL, UBA1, NLRP12, KIF7, PTRH2, FH, AGK, TTN, WNK1, MYO18B, NONO, PHKB, SCN4A, APOA1, KIF21A, GNAS, THRA, C2, DAG1, SPRED1, MRE11A, AIFM1, CBL, KCNJ1, SUCLA2, SPEG, MKKS, MT-CYB, ABCD4, NDUFA1, NDUFA10, CAV3, BANF1, OAT, CTNNB1, PRPS1, NRAS, SMAD4, MTHFR, RAD51, TPM2, IARS2, CTDP1, CTSD, NARS2, PPP2R1A, PNKP, TPI1, AIP, DNAH14, LRPPRC, STAMBP, NPHS1, TRMU, VPS13A, KIF11, SOD1, GNE, PEX5, XRCC4, GLYCTK, ADK, CUL4B, FGF23, HINT1, HNRNPK, PIK3R2, LAMA2, PTPN11, DMPK, VPS11, D2HGDH, TPK1, LIPE, CLCNKB, ERCC6, GRIN2B, SNAP25, POMK, ATXN3, SARS2, RARS, NDUFS2, TRIM32, CYBA, SMN2, LARS, NAA10, MT-CO2, KIF1C, PGK1, MOCS2, COL1A2, AP4B1, ACY1, MCCC2, MYH7, HADH, MYO1E, ARHGDIA, CAPN3, AARS2, KIF1A, LDHA, CLCNKA, NOTCH1, ATP2A1, GPI, MEF2C, CFL2, SUCLG1, EXOSC8, KIF5C, GK, EARS2, MYOM1, HARS, NLRC4, XDH, RAB18, NLRP5, UPF3B, BRAF, KAT6A, DMD, NCF1, UBE2A, VRK1, DNAJB6, DARS2, FLT4, SNIP1, GMPPB, TAZ, TRIM2, SMC1A, VDR, COQ9, ITPA, BSND, HK1, BVES, FARS2, GCLC, DYNC1H1, SCYL1, NDUFV1, PEX1, AR, DLG3, SETX, AIMP1, TBCK, SDHA, ABCG5, PIP5K1C, DDX58, HADHA, DNMT1, CRYAB, PCNA, DHFR, ALDH18A1, NLRP3, SKI, C10orf2, LMNA, F2, KIF5A, MYH14, IFIH1, SQSTM1, PEX6, AP2S1, CAV1, ATP6V1B2, AGT, VPS53, CDK5, NADK2, IGHMBP2, FMR1, NOP56, PIK3CA, HNRNPA1, ABCA1, MTO1, TBK1, PRKAG2, MYH2, NUBPL, ACTA1, DNM1, GBE1, HTR1A, CDKL5, NOS3, TIA1, GATA2, ADCK3, GFPT1, PLOD1, PLOD3, PSMB8, APTX, ACAD9, PNPLA8, DNM1L, EEF1A2, CLCN1, GTPBP3, TMEM173, RPS6KA3, WAS, INS, ABCC8, ATL1, YARS2, TNPO3, HSD17B10, SDHD, SLC22A5, LMX1B, TSFM, CNTN1, TXN2, BICD2, BCS1L, RAPSN, TNFRSF1A, TMEM165, CNNM2, PSAP, CYBB, ACACA, ATP5A1, DCTN1, DNA2, POLD1, MCCC1, TRPM7, ACADSB, PTEN, TRPV4, STAT2, TK2, FAH, PFKM, SSR4, THOC2, PDSS2, PHKG2, MED25, PANK2, TGFB1, ACVR1, TCF4, TRPM6, SGCG, ABCC9, STRADA, UCHL1, TARS2, MOCS1, F10, POLG, TRIM37, TUFM, MARS2, CARS2, ATP2B3, CNBP, PABPN1, PIGT, DNM2, DDX3X, RNASEH1, PPARG, AGL, RBM28, BTK, IBA57, NEU1, SCN8A, AARS, AFG3L2, PDGFRB, KRAS, RBM8A, LPIN1, TARDBP, ARFGEF2, MEGF10, GNAI2, MRPL44, NSUN2, GYS1, PDGFRA, NCF2, TAF1, AP1S1, CLPB, ACADVL, ADCY5, SPATA5, MATR3, PLIN1, QARS, TTR, FLNC, KCNJ11, GNA11, GJA1, DYSF, MYH3, INF2, SGCA, MECP2, CASR, GCK, PYGM, PYCR2, TUBB2A, HADHB, DCC, NDUFS1, VCP, ATP1A3, SLC25A4, COASY, SIL1, TUBB3, MUSK, DDOST, PNPT1, SUMF1, LCK, GLE1, FLNA, BIN1, HSD17B4, ENTPD1, CASK, PRKACA, INSR, SLC25A32, MARS, MYH8, L1CAM, OPA1, RET, PEX19, HACE1, RARS2, MYH11, CHKB, MTRR, PIK3R1

HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, OCULODENTODIGITAL DYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, PARAMYOTONIA CONGENITA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, TIMOTHY SYNDROME, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, BARTTER SYNDROME, TYPE 2, RIPPLING MUSCLE DISEASE, ?SPASTIC PARAPLEGIA 63, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, 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, BARTTER SYNDROME, TYPE 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, BANNAYAN-RILEY-RUVALCABA SYNDROME, BECKER MUSCULAR DYSTROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, FRONTOMETAPHYSEAL DYSPLASIA, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, ZIMMERMANN-LABAND SYNDROME 1, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, CAMURATI-ENGELMANN DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, HYPOKALEMIC PERIODIC PARALYSIS 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, EPISODIC ATAXIA/MYOKYMIA SYNDROME, MYOPATHY, DISTAL, 4, BARTTER SYNDROME, TYPE 4B, DIGENIC, MYOTONIA CONGENITA, RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MYOTONIA CONGENITA, DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 16, KEPPEN-LUBINSKY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

CAV3, NCF2, SCN4A, SCN11A, CYBB, CLCNKA, PTEN, KCNJ5, NALCN, SQSTM1, TGFB1, NOS3, ANK3, CAV1, DAG1, AGT, DMD, KCNJ6, PRKACA, CACNA1C, KCNJ11, CLCN1, FLNA, SCN9A, SCN8A, GJA1, KCNJ1, KCNA1, L1CAM, CLCNKB, GRIN2B, FLNC, PTPN11, BSND, CACNA1S, AMPD2, KCNT1, RYR1, PEX5, PCNA, KCNH1, CNTN1, ABCC8, CASK, PIK3R1

LOEYS-DIETZ SYNDROME 5, INFANTILE MYOFIBROMATOSIS 1, MYOPATHY, MYOFIBRILLAR, 6, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, KOSAKI OVERGROWTH SYNDROME, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, ID, LYMPHEDEMA, HEREDITARY, IA, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, BETHLEM MYOPATHY 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY, ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD, STIFF SKIN SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PITUITARY ADENOMA, ACTH-SECRETING, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, EHLERS-DANLOS SYNDROME, TYPE VI, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1

CAV1, PSAP, CDK5, COL4A1, AR, FLT4, TGFB1, SQSTM1, COL3A1, TGFB3, F2, CASR, AGT, FGFR1, COL5A1, INSR, LTBP2, NOS3, COL6A1, TUBB3, PLOD1, LIFR, WISP3, PDGFRA, GNAS, BAG3, FBN1, SPARC, VEGFC, NOTCH1, LTBP4, COL1A2, MAG, PDGFRB, MYH11, HSPG2, ACVR1, INS, PTEN

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, GLYCOGEN STORAGE DISEASE IV, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, SHORT SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, 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, LYMPHEDEMA, HEREDITARY, IA, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, 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, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, MANDIBULOACRAL DYSPLASIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, WIEDEMANN-STEINER SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MYOPATHY, SPHEROID BODY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, PHELAN-MCDERMID SYNDROME, SPINOCEREBELLAR ATAXIA 36, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, NEPHROTIC SYNDROME, TYPE 8, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MALOUF SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HEART-HAND SYNDROME, SLOVENIAN TYPE, MYOTONIC DYSTROPHY 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, CREATINE PHOSPHOKINASE, ELEVATED SERUM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, NEPHROTIC SYNDROME, TYPE 2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOPATHY, MYOFIBRILLAR, 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, BECKER MUSCULAR DYSTROPHY, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, OGDEN SYNDROME, LIANG DISTAL MYOPATHY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, CLOVE SYNDROME, SOMATIC, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MYOPATHY, DISTAL, 4, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYOPATHY, MYOFIBRILLAR, 3, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MYHRE SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

SOD1, TRIM32, CAV1, KMT2A, NCF1, NAA10, CUL3, KLHL3, AGT, PPARG, CDK5, CTNNB1, NEB, MYH7, MYO1E, DNM2, NOP56, TTN, PIK3CA, EMD, USP8, SMAD4, CAPN3, ARHGDIA, MYH2, ACTA1, MYOT, PLEC, MYH14, AR, NOS3, DAG1, RYR1, SYNE1, NPHS2, CFL2, SGCG, MYO18B, DMPK, KIF5C, CBL, TPM2, MYBPC1, SLC4A1, ACVR1, CAV3, GRIN2B, ALDOA, GJA1, DYSF, MYH3, INF2, FLT4, TAF1, KLC2, CASR, DMD, RAPSN, SMC1A, GBE1, VCP, TANGO2, DCTN1, TRPM7, LDB3, TRPV4, SHANK3, DST, FLNA, PIK3R2, TGFB1, PTPN11, LMNA, LRPPRC, FMN2, CASK, WAS, PRKACA, DIAPH1, UBE2A, ANK3, MYH8, L1CAM, FLNC, GRM1, PTEN, DCC, TCAP, MYH11, NLRP3, C10orf2, SYNE2, KPTN, TPM3, PIK3R1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, MULTIPLE ENDOCRINE NEOPLASIA IIB, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, IMMUNODEFICIENCY 44, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, LEBER OPTIC ATROPHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, MYOFIBRILLAR, 5, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, EMBERGER SYNDROME, WELANDER DISTAL MYOPATHY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), ARTS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MIRROR MOVEMENTS 2, ARTHROGRYPOSIS, DISTAL, TYPE 2A, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, SENGERS SYNDROME, ?AL-GAZALI-BAKALINOVA SYNDROME, OGDEN SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LIVER FAILURE, TRANSIENT INFANTILE, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, COLE DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 4, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, PITT-HOPKINS SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHOREOACANTHOCYTOSIS, SHPRINTZEN-GOLDBERG SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MULIBREY NANISM, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACETYL-COA CARBOXYLASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), LEGIUS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, OPTIC ATROPHY PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, NEPHROTIC SYNDROME, TYPE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, ?MYASTHENIC SYNDROME, CONGENITAL, 18, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BECKER MUSCULAR DYSTROPHY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 9, LEUKODYSTROPHY, HYPOMYELINATING, 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, GLYCOGEN STORAGE DISEASE 0, MUSCLE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, BRODY MYOPATHY, GLYCOGEN STORAGE DISEASE IV, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, COCKAYNE SYNDROME, TYPE B, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, 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, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, CAPOS SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, FRONTOMETAPHYSEAL DYSPLASIA, CENTRONUCLEAR MYOPATHY 5, FANCONI RENOTUBULAR SYNDROME 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, OSSEOUS HETEROPLASIA, PROGRESSIVE, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOTONIC DYSTROPHY 1, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, OCULOECTODERMAL SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, GLYCOGEN STORAGE DISEASE IXC, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, LEUKODYSTROPHY, HYPOMYELINATING, 12, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TANGIER DISEASE, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, HYPOMAGNESEMIA 1, INTESTINAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, SINGLETON-MERTEN SYNDROME 2, MCKUSICK-KAUFMAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, MYOFIBRILLAR, 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYHRE SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SHORT SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPINOCEREBELLAR ATAXIA 36, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MICROHYDRANENCEPHALY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, FUMARASE DEFICIENCY, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, 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, MENTAL RETARDATION, X-LINKED 90, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, WARBURG MICRO SYNDROME 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, NONAKA MYOPATHY

PEX5, SLC34A1, DNM2, CAV1, SQSTM1, FGFR1, MYH14, GLYCTK, VARS2, SOD1, ATP2B3, CNBP, SPATA5, IFIH1, GNA11, KIF1C, BANF1, CUL3, MOCS2, COASY, PEX6, AP2S1, CARS2, ATP6V1B2, AP4B1, POLD1, VPS53, GCK, PPARG, INSR, CDK5, OAT, NLRC4, SCN8A, DNAH14, YARS2, ACY1, MCCC2, UBE2A, BTK, NADK2, IGHMBP2, F2, NRAS, CBL, LIPE, NDUFS2, FH, TRIM32, NOP56, TRPM7, PIK3CA, WNK1, AARS, HTR1A, SIL1, AFG3L2, RNASEH1, HNRNPA1, ABCA1, PDGFRB, FLT4, HSD17B10, TBK1, ARHGDIA, PRKAG2, KIF7, MRE11A, GNAI2, CTNNB1, KIF1A, MUSK, NUBPL, ACTA1, AIFM1, DNM1, INF2, KRIT1, SUCLA2, MYOM1, ACVR1, KRAS, NLRP12, APOA1, GK, SLC22A5, CDKL5, AR, GMPPB, NDUFA1, PGK1, NOS3, THRA, KCNJ1, TIA1, PIGT, GATA2, GPI, MEF2C, CASK, KCNJ11, MECP2, CFL2, DDOST, QARS, GFPT1, SGCG, EXOSC8, CTDP1, KIF5C, DHFR, MEGF10, PSMB8, AARS2, MRPL44, SPRED1, NSUN2, TPM2, PNPLA8, EARS2, GNAS, SPEG, FMR1, CRYAB, EEF1A2, TGFB1, MKKS, AP1S1, TNFRSF1A, GTPBP3, ITPA, MT-CYB, ABCD4, TAZ, ADK, ABCG5, RAB18, OPA1, BIN1, CASR, PANK2, AGT, STAMBP, ADCY5, NDUFA10, INS, ABCC8, SNAP25, PIK3R2, CTSD, PLIN1, TUFM, CAV3, TTR, ATL1, DDX3X, AGL, BICD2, GJA1, PRPS1, PEX1, C2, HK1, SMAD4, PHKB, LDHA, DARS2, CUL4B, SGCA, TAF1, SNIP1, LMX1B, RAPSN, GYS1, PFKM, DLG3, IARS2, CNTN1, DMD, NARS2, PNKP, BCS1L, PPP2R1A, GRIN2B, NAA10, TRIM2, POMK, SSR4, VPS11, MYH2, NDE1, SMC1A, TUBB3, PSAP, TUBB2A, VDR, HACE1, ACACA, UBA1, DDX58, RAD51, WAS, NPHS1, CLPB, ATP5A1, SLC25A4, TRMU, ADCK3, DCTN1, HNRNPK, DNA2, RARS2, NCF1, KIF11, HARS, MCCC1, TTN, ACADSB, GNE, KAT6A, PTEN, TRPV4, MARS2, GCLC, BRAF, STAT2, TK2, PNPT1, RBM28, DYNC1H1, ERCC6, NDUFS1, SCYL1, FAH, LCK, AIP, GLE1, MYO1E, KIF21A, FLNA, SUCLG1, FGF23, SETX, AIMP1, MYH7, VPS13A, DNM1L, TBCK, NOTCH1, HSD17B4, TARDBP, FLNC, MYH3, AGK, NONO, ENTPD1, MYO18B, APTX, RPS6KA3, PIP5K1C, VCP, VRK1, PDGFRA, PHKG2, RARS, NLRP3, MT-CO2, PCNA, NLRP5, TCF4, PTPN11, FARS2, ENPP1, TPK1, TRPM6, GBE1, C10orf2, MARS, ABCC9, ATP2A1, MYH8, L1CAM, STRADA, KIF5A, ATP1A3, RET, TARS2, PEX19, MOCS1, F10, LAMA2, DCC, POLG, ATXN3, DAG1, SARS2, PRKACA, MYH11, ALDH18A1, CHKB, PIK3R1, TRIM37, LARS, MTRR, SMN2, DMPK, SKI

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARTHROGRYPOSIS, DISTAL, TYPE 5, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CAMURATI-ENGELMANN DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, BARTTER SYNDROME, TYPE 2, 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, MYOTONIC DYSTROPHY 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MYOPATHY, TUBULAR AGGREGATE, 1, LYMPHEDEMA, HEREDITARY, III, HYPOMAGNESEMIA 1, INTESTINAL, EPISODIC ATAXIA/MYOKYMIA SYNDROME, STORMORKEN SYNDROME, MYOTONIA CONGENITA, RECESSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ARTHROGRYPOSIS, DISTAL, TYPE 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, ?SPASTIC PARAPLEGIA 63, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MIYOSHI MUSCULAR DYSTROPHY 3, ?MARDEN-WALKER SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, PITUITARY DEPENDENT HYPERCORTISOLISM, 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}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MYOPATHY, TUBULAR AGGREGATE, 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, KEPPEN-LUBINSKY SYNDROME, HYPOMAGNESEMIA 2, RENAL, EMBERGER SYNDROME, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TIMOTHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LYMPHEDEMA, HEREDITARY, IC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOKALEMIC PERIODIC PARALYSIS 1, IMMUNODEFICIENCY 10, TANGIER DISEASE, BECKER MUSCULAR DYSTROPHY, BARTTER SYNDROME, TYPE 4B, DIGENIC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MYASTHENIC SYNDROME, CONGENITAL, 16, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, GLYCOGEN STORAGE DISEASE XI, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, MYOPATHY, DISTAL, 4, HYPERALDOSTERONISM, FAMILIAL, TYPE III, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ESCOBAR SYNDROME, BARTTER SYNDROME, TYPE 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, MYOTONIA CONGENITA, DOMINANT, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, IMMUNODEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

F2, CHRNG, NALCN, SQSTM1, CACNA1C, CAV1, AGT, KCNJ6, CDK5, HIBCH, GJA1, PIEZO2, KCNA1, TRPM6, GATA2, PIK3CA, SCN8A, PRF1, KCNT1, GRID2, GNAI2, ANO10, PTEN, SDHD, SCN4A, KRAS, APOA1, CLCNKA, ANO5, NOS3, DAG1, RYR1, KIF5A, NPHS2, ARFGEF2, ABCA1, KIF5C, ORAI1, KCNJ1, NCF2, GJC2, CLCN1, CACNA1S, PCNA, FXYD2, BRAF, INS, SNAP25, MT-CO1, CAV3, STIM1, FLNC, KCNJ11, CTNNB1, LDHA, CTCF, MECP2, KLC2, CASR, CNTN1, DMD, KCNJ5, CHRNA1, CYBA, SCN11A, VCP, PIEZO1, ITGA7, BSND, TRPM7, PEX5, TRPV4, MUSK, KCNH1, CHRND, GJB1, FLNA, CHRNE, CYBB, PIK3R2, TGFB1, PTPN11, ANK3, CASK, PRKACA, CHRNB1, SCN9A, FMR1, HERC2, SLC1A4, SGCG, ABCC9, L1CAM, CLCNKB, GRIN2B, GRM1, ABCC8, AMPD2, NDUFS2, DMPK, PIK3R1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, GLYCOGEN STORAGE DISEASE IV, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MYOTONIC DYSTROPHY 2, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, ?AL-GAZALI-BAKALINOVA SYNDROME, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION

MYO1E, HSD17B4, GBE1, CNBP, KIF21A, KIF1C, KLC2, GRIN2B, KIF5A, DNAH14, SMC1A, MYH14, MYO18B, KIF5C, MYH7, KIF7, MYH8, DCTN1, TRIM32, KIF11, MYH2, MYH11, MYH3, DYNC1H1, KIF1A

MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, GLYCOGEN STORAGE DISEASE IV, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, TYROSINEMIA, TYPE I, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, SINGLETON-MERTEN SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, SHORT SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, CAPOS 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, SINGLETON-MERTEN SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, WIEDEMANN-STEINER SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, 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, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MACHADO-JOSEPH DISEASE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 2, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, WELANDER DISTAL MYOPATHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, IMMUNODEFICIENCY 44, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PITT-HOPKINS SYNDROME, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, CENTRONUCLEAR MYOPATHY 5, OGDEN SYNDROME, LYMPHEDEMA, HEREDITARY, IA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CHOREOACANTHOCYTOSIS, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, COENZYME Q10 DEFICIENCY, PRIMARY, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, RIPPLING MUSCLE DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, ?IMMUNODEFICIENCY 22, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MULIBREY NANISM, MENTAL RETARDATION, X-LINKED 102, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPINOCEREBELLAR ATAXIA 36, NEPHROTIC SYNDROME, TYPE 8, ACETYL-COA CARBOXYLASE DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MUCKLE-WELLS SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 2, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MIRROR MOVEMENTS 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), OSSEOUS HETEROPLASIA, PROGRESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE IXC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, EMBERGER SYNDROME, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, INFANTILE MYOFIBROMATOSIS 1, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, ARTS SYNDROME, OCULOECTODERMAL SYNDROME, LEPRECHAUNISM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, LIVER FAILURE, TRANSIENT INFANTILE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, MENTAL RETARDATION, X-LINKED 19, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, NEPHROTIC SYNDROME, TYPE 1, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, ?AL-GAZALI-BAKALINOVA SYNDROME, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5, BANNAYAN-RILEY-RUVALCABA SYNDROME, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, GLYCEROL KINASE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LIANG DISTAL MYOPATHY, FRAGILE X TREMOR/ATAXIA SYNDROME, MYOTONIC DYSTROPHY 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MYOTONIC DYSTROPHY 2, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, TANGIER DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BECKER MUSCULAR DYSTROPHY, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, MIRROR MOVEMENTS 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, MYOTUBULAR MYOPATHY, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, HYPOMAGNESEMIA 1, INTESTINAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, GLYCOGEN STORAGE DISEASE VII, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, D-GLYCERIC ACIDURIA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GLYCOGEN STORAGE DISEASE 0, MUSCLE, BARTH SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NAIL-PATELLA SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, GLYCOGEN STORAGE DISEASE XI, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SENGERS SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, ?MICROHYDRANENCEPHALY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MCKUSICK-KAUFMAN SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PERIODIC FEVER, FAMILIAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, NONAKA MYOPATHY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 9, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MYHRE SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MENTAL RETARDATION, X-LINKED 90, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, MARINESCO-SJOGREN SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, 2-METHYLBUTYRYLGLYCINURIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AMINOACYLASE 1 DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, LEUKODYSTROPHY, HYPOMYELINATING, 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, COLE DISEASE, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, BRODY MYOPATHY, AU-KLINE SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

PEX5, SLC34A1, DNM2, CAV1, SQSTM1, FGFR1, MYH14, VARS2, SOD1, ATP2B3, CNBP, PRKACA, IFIH1, KIF1C, BANF1, CUL3, COASY, PEX6, AP2S1, CARS2, ATP6V1B2, AP4B1, POLD1, NDUFS1, PPARG, INSR, CDK5, OAT, NLRC4, WNK1, DNAH14, ACY1, BTK, MCCC2, UBE2A, TK2, NADK2, IGHMBP2, F2, CBL, LIPE, NDUFS2, FH, TRIM32, NOP56, TRPM7, PIK3CA, KCNJ11, ARHGDIA, AARS, SIL1, AFG3L2, RNASEH1, HNRNPA1, ABCA1, PDGFRB, HSD17B10, TBK1, GNE, PRKAG2, KIF7, MRE11A, GNAI2, CTNNB1, KIF1A, MUSK, NUBPL, PCNA, AIFM1, DNM1, LDHA, SUCLA2, MYOM1, FARS2, KRAS, NLRP12, APOA1, MEGF10, DARS2, CDKL5, AR, NDUFA1, PGK1, NOS3, THRA, KCNJ1, DAG1, GATA2, GPI, MEF2C, CASK, TARDBP, MECP2, CFL2, DDOST, QARS, GFPT1, SGCG, EXOSC8, CTDP1, KIF5C, GK, PSMB8, AARS2, MRPL44, CRYAB, ABCC9, SPRED1, NSUN2, CASR, PNPLA8, EARS2, GNAS, SPEG, FMR1, PDGFRA, EEF1A2, TGFB1, MKKS, AP1S1, TNFRSF1A, ITPA, MT-CYB, ABCD4, TAZ, ADK, ABCG5, SUCLG1, NLRP5, BIN1, PANK2, AGT, STAMBP, ADCY5, NDUFA10, SPATA5, INS, ABCC8, LARS, PIK3R2, GCK, PLIN1, TUFM, CAV3, TTR, PFKM, DDX3X, AGL, BICD2, GJA1, PRPS1, PEX1, SMAD4, PHKB, INF2, SLC22A5, FLT4, TAF1, SNIP1, LMX1B, RAPSN, GYS1, GMPPB, DLG3, IARS2, CNTN1, DMD, NARS2, PNKP, BCS1L, ACVR1, PPP2R1A, GRIN2B, NAA10, POMK, SSR4, MYH2, NDE1, SMC1A, SCN8A, PSAP, TUBB2A, VDR, ACACA, UBA1, DDX58, RAD51, WAS, NPHS1, CLPB, ATP5A1, SLC25A4, TRMU, ADCK3, DCTN1, HNRNPK, DNA2, RARS2, NCF1, KIF11, HARS, MCCC1, TTN, ACADSB, HK1, KAT6A, PTEN, TRPV4, GCLC, BRAF, STAT2, GLYCTK, PNPT1, RBM28, DYNC1H1, ERCC6, SCYL1, FAH, LCK, AIP, GLE1, MYO1E, KIF21A, FLNA, FGF23, SETX, AIMP1, MYH7, VPS13A, TBCK, NOTCH1, HSD17B4, MYH3, AGK, LAMA2, ENTPD1, MYO18B, RPS6KA3, PIP5K1C, VCP, VRK1, PHKG2, RARS, ACTA1, NLRP3, MT-CO2, TCF4, PTPN11, YARS2, ENPP1, TPK1, TRPM6, GBE1, C10orf2, MARS, MARS2, ATP2A1, MYH8, L1CAM, STRADA, KIF5A, ATP1A3, RET, TARS2, PEX19, DHFR, F10, DCC, POLG, ATXN3, TIA1, SARS2, MYH11, ALDH18A1, CHKB, PIK3R1, TRIM37, MTRR, SMN2, DMPK, SKI

TYROSINEMIA, TYPE I, GLYCOGEN STORAGE DISEASE IV, NON-IMMUNE HYDROPS FETALIS, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CAMURATI-ENGELMANN DISEASE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, RIPPLING MUSCLE DISEASE, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MCARDLE DISEASE, SHORT SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, MUSCLE GLYCOGENOSIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LIANG DISTAL MYOPATHY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, CLOVE SYNDROME, SOMATIC, ZIMMERMANN-LABAND SYNDROME 1, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYOTONIC DYSTROPHY 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, TANGIER DISEASE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, TIMOTHY SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODEFICIENCY 9, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MYOPATHY, TUBULAR AGGREGATE, 2, OGDEN SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, MYOPATHY, DISTAL, TATEYAMA TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, GLYCOGEN STORAGE DISEASE IXC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

ACTA1, CAV3, MYO1E, TRPV4, MYH14, APOA1, PHKB, ATP2B3, MYH3, PYGM, GBE1, ORAI1, GNAS, TGFB1, PHKA1, NOS3, PPP2R1A, TPM2, DAG1, AGT, PHKG2, RYR1, CDK5, CASK, CACNA1C, ABCA1, CTNNB1, MYH7, NDUFAF4, BRAF, MYOM1, MYH8, PCNA, NEFL, PIK3CA, PTEN, TTN, KRIT1, CNBP, MYH2, MYH11, NAA10, KCNH1, PIK3R1, GNAI2, SNAP25, DMD, FAH

SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, BECKER MUSCULAR DYSTROPHY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, BARTH SYNDROME, SHORT SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, 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, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 4, MACHADO-JOSEPH DISEASE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, WELANDER DISTAL MYOPATHY, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, COWCHOCK SYNDROME, OGDEN SYNDROME, LYMPHEDEMA, HEREDITARY, IA, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SHPRINTZEN-GOLDBERG SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MULIBREY NANISM, MUSCLE GLYCOGENOSIS, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, SPINOCEREBELLAR ATAXIA 36, FRONTOMETAPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 44, CENTRONUCLEAR MYOPATHY 5, MUCKLE-WELLS SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, FANCONI RENOTUBULAR SYNDROME 2, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, 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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, GLYCOGEN STORAGE DISEASE IXC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, EMBERGER SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, MEDNIK SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, NEPHROTIC SYNDROME, TYPE 9, TYROSINEMIA, TYPE I, FUMARASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, ARTS SYNDROME, OCULOECTODERMAL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MIRROR MOVEMENTS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, GLYCEROL KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FRAGILE X TREMOR/ATAXIA SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, TANGIER DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MIRROR MOVEMENTS 1, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, HYPOMAGNESEMIA 1, INTESTINAL, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, WIEDEMANN-STEINER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, D-GLYCERIC ACIDURIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, NAIL-PATELLA SYNDROME, INFANTILE MYOFIBROMATOSIS 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SENGERS SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, KOSAKI OVERGROWTH SYNDROME, ?2,4-DIENOYL-COA REDUCTASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PERIODIC FEVER, FAMILIAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MYOPATHY, MYOFIBRILLAR, 2, LYMPHEDEMA, HEREDITARY, ID, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MYHRE SYNDROME, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MENTAL RETARDATION, X-LINKED 90, MARFAN LIPODYSTROPHY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), FACTOR XIIIA DEFICIENCY, ATAXIA-OCULOMOTOR APRAXIA 4, 2-METHYLBUTYRYLGLYCINURIA, AGAMMAGLOBULINEMIA, X-LINKED 1, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AU-KLINE SYNDROME, NONAKA MYOPATHY