MUSCLE AND SOFT TISSUES

PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, BECKER MUSCULAR DYSTROPHY, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, MYOPATHY, CENTRONUCLEAR, 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, MENTAL RETARDATION, X-LINKED 102, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, 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, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, MYOTONIC DYSTROPHY 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, WIEDEMANN-STEINER SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MACHADO-JOSEPH DISEASE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MIYOSHI MUSCULAR DYSTROPHY 1, MYOPATHY, TUBULAR AGGREGATE, 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, LYMPHEDEMA, HEREDITARY, III, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AMYOTROPHIC LATERAL SCLEROSIS 11, STORMORKEN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TIMOTHY SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, COWCHOCK SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MULTIPLE SULFATASE DEFICIENCY, MEND SYNDROME, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?IMMUNODEFICIENCY 22, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CAPOS SYNDROME, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PITUITARY DEPENDENT HYPERCORTISOLISM, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CK SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPINOCEREBELLAR ATAXIA 36, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SHORT SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, NEPHROTIC SYNDROME, TYPE 8, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, ACETYL-COA CARBOXYLASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, WHITE-SUTTON SYNDROME, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOKALEMIC PERIODIC PARALYSIS 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, TANGIER DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, GLYCOGEN STORAGE DISEASE VII, RENAL TUBULAR ACIDOSIS, DISTAL, AD, 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, FRONTOMETAPHYSEAL DYSPLASIA, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, AMYOTROPHIC LATERAL SCLEROSIS 8, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, INFANTILE MYOFIBROMATOSIS 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, GLYCOGEN STORAGE DISEASE XI, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, KOSAKI OVERGROWTH SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERCALCEMIA, INFANTILE, CARDIOMYOPATHY, DILATED, 1X, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CEROID LIPOFUSCINOSIS, NEURONAL, 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, ?SPINOCEREBELLAR ATAXIA 34, MYHRE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, NETHERTON SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, LEUKODYSTROPHY, HYPOMYELINATING, 3, IMMUNODEFICIENCY 10, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, BRODY MYOPATHY, AU-KLINE SYNDROME

SLC34A1, PGAP1, CAV1, SQSTM1, PLOD3, KMT2A, CDK5, SOD1, NOP56, CNBP, POMT1, F7, KIF1C, STIM1, CUL3, GNAI2, GBA2, F2, MAG, AGT, PPARG, COX6A1, NSDHL, CLN3, BTK, PIGC, LIPE, PNPLA2, TRIM32, DES, POMGNT1, EMD, PDGFRB, HSD17B10, CCDC78, ARHGDIA, PIGG, MAFB, CTNNB1, KIF1A, PTEN, FIG4, VAPB, LDHA, ACVR1, KRAS, APOA1, CBL, CAPN3, PGM1, PGK1, NOS3, ATP2A1, PIEZO1, DAG1, RYR1, KIF5A, NPHS2, CYBB, KCNJ11, COL1A2, QARS, ABCA1, POGZ, GTPBP3, AIFM1, MEGF10, POMGNT2, AGRN, EBP, ELOVL4, GNAS, MPC1, FMR1, LRSAM1, ATL1, DSE, SLC4A1, WWOX, TNFRSF1A, TMEM173, CACNA1S, REEP1, FGF23, PCNA, CYP24A1, SYNE2, WAS, TUFM, NUBPL, BRAF, INS, ABCC8, CTSD, USP8, PLIN1, LCK, CAV3, TTR, EEF1A2, DDX3X, AGL, GJA1, TNPO3, DYSF, TTC19, SMAD4, INF2, TRDN, FLNA, CASR, DMD, COL4A1, PPP2R1A, NDUFA2, TUBB3, PLEC, HADHB, VDR, HACE1, ACACA, VCP, PEX3, NPHS1, ATP1A3, ATXN3, NCF1, DPM2, MPDU1, SIL1, PEX5, TRPV4, SPINK5, DDOST, ERLIN2, GJB1, SUMF1, CASQ1, PFKM, SSR4, DPM1, DLG3, BIN1, AIMP1, HNRNPK, CD59, SERAC1, MYH3, TGFB1, PTRF, PTPN11, PIP5K1C, PEX16, RARS, NEB, MT-CO2, IER3IP1, CACNA1C, INSR, NOTCH1, KIAA0196, DST, NDUFB9, FKTN, CIDEC, FKRP, TBK1, L1CAM, B3GALNT2, C19orf12, ATP5A1, RET, PEX19, SNAP25, DCC, ITGA7, TMEM43, AGPAT2, ANK3, HSPG2, EXT2, MTRR, SMN2, REEP2, DMPK, PIK3R1

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OCULODENTODIGITAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SHORT SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, NEPHROTIC SYNDROME, TYPE 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, FRONTOMETAPHYSEAL DYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRAGILE X TREMOR/ATAXIA SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, NEPHROTIC SYNDROME, TYPE 8, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MYOPATHY, TUBULAR AGGREGATE, 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MENTAL RETARDATION, X-LINKED 90, IMMUNODEFICIENCY 10, HEART-HAND SYNDROME, SLOVENIAN TYPE, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, STORMORKEN SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MALOUF SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MANDIBULOACRAL DYSPLASIA, MENTAL RETARDATION, X-LINKED 99, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEPHROTIC SYNDROME, TYPE 6, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

LMNA, STIM1, DLG3, MYH14, IGHMBP2, CDKL5, CDK5, ALS2, NOS3, KPTN, FLNA, AGT, RYR1, FGFR1, WAS, USP9X, TRIM2, MECP2, CTNNB1, GJA1, NPHS1, FMR1, ITGA3, NEFL, PCNA, DCTN1, GRM1, KIF11, PTPRO, EMD, TRPV4, ARHGDIA, NEB, SNAP25, SIGMAR1, CASK, PIK3R1

PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TRYPSINOGEN DEFICIENCY, SHORT SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ADENYLOSUCCINASE DEFICIENCY, 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, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, LYMPHEDEMA, HEREDITARY, IA, ANGIOEDEMA, HEREDITARY, TYPES I AND II, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ANGIOEDEMA, HEREDITARY, TYPE III, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MYASTHENIC SYNDROME, CONGENITAL, 19, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, WELANDER DISTAL MYOPATHY, COENZYME Q10 DEFICIENCY, PRIMARY, 7, PREMATURE AGING SYNDROME, PENTTINEN TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), GLYCOGEN STORAGE DISEASE XII, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MANDIBULOACRAL DYSPLASIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, OSTEOGENESIS IMPERFECTA, TYPE XVII, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), CORPUS CALLOSUM, PARTIAL AGENESIS OF, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), VLCAD DEFICIENCY, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, COENZYME Q10 DEFICIENCY, PRIMARY, 2, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, TRANSCOBALAMIN II DEFICIENCY, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, FRONTOMETAPHYSEAL DYSPLASIA, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, COWCHOCK SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 5, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, LEBER OPTIC ATROPHY, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OSSEOUS HETEROPLASIA, PROGRESSIVE, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, AMYOTROPHIC LATERAL SCLEROSIS 17, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, ?INFANTILE LIVER FAILURE SYNDROME 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, OPTIC ATROPHY PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, KOSAKI OVERGROWTH SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MALONYL-COA DECARBOXYLASE DEFICIENCY, OCULOECTODERMAL SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MYOSCLEROSIS, CONGENITAL, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, CLOVE SYNDROME, SOMATIC, BETHLEM MYOPATHY 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MARINESCO-SJOGREN SYNDROME, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MALOUF SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, WIEDEMANN-STEINER SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, MYOTUBULAR MYOPATHY, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, INFANTILE MYOFIBROMATOSIS 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PEROXISOME BIOGENESIS DISORDER 11B, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, GABA-TRANSAMINASE DEFICIENCY, MYOPATHY, DISTAL, 4, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PERIODIC FEVER, FAMILIAL, COENZYME Q10 DEFICIENCY, PRIMARY, 3, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LEUKODYSTROPHY, HYPOMYELINATING, 9, MYOPATHY, MYOFIBRILLAR, 2, LYMPHEDEMA, HEREDITARY, ID, GM2-GANGLIOSIDOSIS, AB VARIANT, LOEYS-DIETZ SYNDROME 5, D-2-HYDROXYGLUTARIC ACIDURIA, MYHRE SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, INFANTILE CEREBELLAR-RETINAL DEGENERATION, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), FACTOR XIIIA DEFICIENCY, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, 2-METHYLBUTYRYLGLYCINURIA, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, LEUKODYSTROPHY, HYPOMYELINATING, 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AU-KLINE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4

ISCU, DNM2, CAV1, FARS2, SMN2, SOD1, ADSL, ACADS, F7, PGK1, COL3A1, YARS2, CARS2, GUSB, LYRM7, AGT, POLD1, GPT2, PPARG, PDSS1, COL5A1, COLQ, CASR, HIBCH, MCCC2, CTNNB1, TK2, F2, COL6A1, HADH, LIPE, PEX13, FH, PNPLA2, MLYCD, PIK3CA, NOTCH1, ARHGDIA, PRF1, SIL1, HNRNPA1, GFPT1, SERPING1, SMAD4, CAPN3, COL13A1, MT-ND2, TRMT5, PTEN, ACTA1, AIFM1, VRK1, SDHD, ECHS1, KRAS, APOA1, COQ4, HEXB, AR, GNAS, NOS3, DAG1, MICU1, RYR1, ASAH1, ALDH6A1, COL1A2, ABAT, MARS2, HADHA, PLOD1, CBL, PLOD3, GNAI2, EARS2, CRYAB, GLA, AGRN, TNNT1, SPARC, TGFB3, VEGFC, ATP6V1B2, FKBP14, MT-CYB, MAG, NDUFA9, CASQ1, FBXL4, PCNA, ACADVL, SUCLA2, NDUFA10, INS, LARS, CTSD, TCN2, TUFM, CAV3, UCHL1, GLB1, OAT, GJA1, NDUFS3, SCO2, HSD17B10, CDK5, QARS, DARS2, FLT4, CTCF, MECP2, INSR, TRDN, GMPPB, PDGFRB, IARS2, PMPCA, GCK, NARS2, COL4A1, RAPSN, TNFRSF1A, SSR4, SMC1A, DMGDH, PRSS1, NDUFS1, RAD51, AIMP1, TANGO2, ATP5A1, SLC25A4, FAR1, CHMP2B, COASY, KIF11, PEX19, MCCC1, ACADSB, HK1, PEX5, F13A1, MUSK, DDOST, PNPT1, COL6A3, LYRM4, SUMF1, LCK, SDHAF1, COL6A2, FLNA, UQCC2, PSAP, PDSS2, HNRNPK, HSD17B4, TXN2, TGFB1, PTPN11, PEX12, PANK2, LMNA, RARS, MT-CO2, D2HGDH, COL5A2, COL9A3, COX6B1, GATM, DNMT1, ALDOA, C10orf2, SUCLG1, NEU1, PDGFRA, L1CAM, OPA1, PDP1, FLNC, TARS2, F12, DHFR, F10, ACO2, RARS2, TIA1, SARS2, MYH11, NDUFB11, ALDH18A1, HSPG2, EXT2, NDUFS2, GM2A, SYNE2, GATA2, PIK3R1

PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, MULTIPLE SULFATASE DEFICIENCY, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, SHORT SYNDROME, 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, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MYOPATHY, TUBULAR AGGREGATE, 1, AGAMMAGLOBULINEMIA, X-LINKED 1, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, BOUCHER-NEUHAUSER SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, STORMORKEN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, GLYCOGEN STORAGE DISEASE XII, COWCHOCK SYNDROME, MANDIBULOACRAL DYSPLASIA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MEND SYNDROME, 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, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MUSCULAR DYSTROPHY, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?IMMUNODEFICIENCY 22, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MIYOSHI MUSCULAR DYSTROPHY 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, PITUITARY DEPENDENT HYPERCORTISOLISM, CK SYNDROME, SPINOCEREBELLAR ATAXIA 36, SPONDYLOOCULAR SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, MYOPATHY, MYOFIBRILLAR, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, OLIVER-MCFARLANE SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, MALOUF SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, WHITE-SUTTON SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, LYSYL HYDROXYLASE 3 DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, GLYCOGEN STORAGE DISEASE IA, NEPHROTIC SYNDROME, TYPE 1, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, BANNAYAN-RILEY-RUVALCABA SYNDROME, WARBURG MICRO SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRAGILE X TREMOR/ATAXIA SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, ?MYASTHENIC SYNDROME, CONGENITAL, 18, IMMUNODEFICIENCY 10, ?MYOFIBROMATOSIS, INFANTILE 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, FRONTOMETAPHYSEAL DYSPLASIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 8, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, INFANTILE MYOFIBROMATOSIS 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, GLYCOGEN STORAGE DISEASE XI, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, MUSCULAR DYSTROPHY, RIGID SPINE, 1, LATERAL MENINGOCELE SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, 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, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, MYHRE SYNDROME, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, NETHERTON SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHEDIAK-HIGASHI SYNDROME, LYMPHEDEMA, HEREDITARY, III, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, BRODY MYOPATHY, AU-KLINE SYNDROME

SOD1, CAV1, PLOD3, LMNA, NOP56, POMT1, PGK1, ALG2, GBA2, F2, AGT, PPARG, CDK5, VMA21, NSDHL, CTNNB1, BTK, PIGC, DST, PNPLA2, PGAP1, DES, G6PC, ARHGDIA, XYLT2, TBK1, PIGG, GNAI2, CYP2R1, SLC33A1, VAPB, PIGY, KRAS, CBL, AR, DPAGT1, ANO5, PIGT, NOS3, ATP2A1, LPIN1, RYR1, EPHX1, CFL2, AIFM1, MEGF10, POMGNT2, POGZ, TRDN, PNPLA8, ATL1, FKBP14, TMEM173, POMT2, NOTCH3, REEP1, CNTN1, PNPLA6, INS, SNAP25, PGAP2, TXN2, CAV3, STIM1, UCHL1, ALDOA, AGL, GJA1, TNPO3, NECAP1, SMAD4, BCS1L, LDHA, CTNS, KLC2, CASR, TBC1D20, CTSD, PLOD1, SLC9A6, PPP2R1A, GRIN2B, TRIM2, TNFRSF1A, TUBB3, VDR, C19orf12, VCP, NPHS1, ATP5A1, DCTN1, ABCD4, DPM2, PTEN, POMK, SPINK5, DDOST, ERLIN2, GJB1, SUMF1, CASQ1, LCK, SSR4, PIGN, FLNA, HNRNPK, SEPN1, DPM1, TGFB1, LYST, PTPN11, MFSD2A, FMN2, IER3IP1, WAS, MT-CO2, CACNA1C, INSR, EBP, NOTCH1, FMR1, DNMT1, CPT1A, ZMPSTE24, L1CAM, SLC35A3, PCNA, PIEZO1, RET, PEX19, TUFM, F10, PEX16, MPDU1, SIGMAR1, AGPAT2, HSPG2, EXT2, SYNE2, REEP2, DMPK, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CAMURATI-ENGELMANN DISEASE, DUCHENNE MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 10, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, MYOPATHY, MYOFIBRILLAR, 1, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, ?MYASTHENIC SYNDROME, CONGENITAL, 17, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

CAV3, FLNA, CHRNE, GJA1, PRPH, CDK5, TGFB1, NOS3, ANK3, F2, DAG1, AGT, DMD, PRKACA, RAPSN, CHRNA1, CTNNB1, LRP4, DOK7, GRIN2B, DES, ITGA7, MUSK

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, BECKER MUSCULAR DYSTROPHY, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SINGLETON-MERTEN SYNDROME 2, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 10, 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, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, 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, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MACHADO-JOSEPH DISEASE, FANCONI RENOTUBULAR SYNDROME 2, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 19, PORETTI-BOLTSHAUSER SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, AGAMMAGLOBULINEMIA, X-LINKED 1, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MENTAL RETARDATION, X-LINKED 1, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, MENTAL RETARDATION, X-LINKED 99, MANDIBULOACRAL DYSPLASIA, OGDEN 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, WIEDEMANN-STEINER SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, ATAXIA-TELANGIECTASIA-LIKE DISORDER, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, LEPRECHAUNISM, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, 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, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, PITUITARY DEPENDENT HYPERCORTISOLISM, PHELAN-MCDERMID SYNDROME, SPINOCEREBELLAR ATAXIA 36, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOANAL ATRESIA AND LYMPHEDEMA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MUCKLE-WELLS SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, NEPHROTIC SYNDROME, TYPE 8, ?CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MALOUF SYNDROME, NEPHROTIC SYNDROME, TYPE 6, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MICROHYDRANENCEPHALY, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYMPHEDEMA, HEREDITARY, IA, EMBERGER SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, WIEACKER-WOLFF SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CREATINE PHOSPHOKINASE, ELEVATED SERUM, INFANTILE MYOFIBROMATOSIS 1, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, MYASTHENIC SYNDROME, CONGENITAL, 5, MIRROR MOVEMENTS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, LIANG DISTAL MYOPATHY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, NEPHROTIC SYNDROME, TYPE 2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPISODIC ATAXIA, TYPE 6, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MUSCULAR DYSTROPHY, CONGENITAL, LEUKODYSTROPHY, HYPOMYELINATING, 12, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, MYOTONIC DYSTROPHY 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOKALEMIC PERIODIC PARALYSIS 1, ?MYASTHENIC SYNDROME, CONGENITAL, 17, TANGIER DISEASE, MYOPATHY, MYOFIBRILLAR, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, ?MYOFIBROMATOSIS, INFANTILE 2, MIRROR MOVEMENTS 1, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, FRAGILE X TREMOR/ATAXIA SYNDROME, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, ?IMMUNODEFICIENCY 22, ?AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 16, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, GLYCOGEN STORAGE DISEASE XI, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, KOSAKI OVERGROWTH SYNDROME, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MYOPATHY, DISTAL, 4, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESCOBAR SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, COENZYME Q10 DEFICIENCY, PRIMARY, 3, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LATERAL MENINGOCELE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MYHRE SYNDROME, GITELMAN SYNDROME, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, HEART-HAND SYNDROME, SLOVENIAN TYPE, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ATAXIA-OCULOMOTOR APRAXIA 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CHEDIAK-HIGASHI SYNDROME, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, BRODY MYOPATHY, AU-KLINE SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

SLC34A1, DNM2, CAV1, SQSTM1, FGFR1, KMT2A, CAV3, NOP56, PRPH, CHRNG, VPS11, PIGT, F2, CPT1A, AGT, PPARG, LDB3, CDK5, TAF1, COLQ, HIBCH, SCN8A, PLEKHG5, CTNNB1, BTK, MYH7, PTPN14, DST, ITGA3, PNPLA2, NEU1, DES, PIK3CA, TRIM32, WNK1, ARHGDIA, EMD, PDGFRB, NAA10, CAPN3, GRID2, HNRNPA1, MRE11A, GNAI2, KIF1A, PTEN, ACTA1, DNMT1, DNM1, LDHA, SCN4A, LIMS2, TRPV4, SCN11A, HTR1A, CBL, TBK1, AR, LYST, SGCA, NOS3, ATP2A1, APTX, DAG1, RYR1, KIF5A, NPHS2, KCNJ11, LAMA1, CFL2, ARFGEF2, ABCA1, MYOM1, MYO18B, DMPK, KIF5C, MEGF10, KCNJ1, AGRN, TPM2, TNNT1, MPC1, FMR1, LRSAM1, SYT2, DSE, RAD51, CACNA1S, KRIT1, NOTCH3, MYH3, TALDO1, CLDN16, RPS6KA3, WAS, BRAF, SPATA5, INS, DNM1L, SNAP25, EEF1A2, NCF1, TTR, RET, UBN1, GJA1, DYSF, SMAD4, PLEC, FLT4, CHRNB1, RAPSN, KLC2, FLNA, CASR, CNTN1, DMD, CHRNA1, USP9X, ACVR1, PPP2R1A, GRIN2B, PNKP, NDE1, SMC1A, KRAS, TUBB2A, HACE1, FHL1, DDX58, DIAPH1, NPHS1, MYH2, NEFL, DCTN1, ITGA7, KIF11, PTPRO, COL13A1, BVES, XRCC4, MUSK, KCNH1, SHANK3, DDOST, TPI1, CHRND, DYNC1H1, GJB1, LCK, DLG3, CHRNE, BIN1, PDSS2, HNRNPK, CD59, ZC4H2, PIK3R2, TGFB1, PTPN11, B4GALT1, VCP, CASK, NEB, PRKACA, CACNA1C, INSR, NOTCH1, FRMD4A, LMNA, MYO1E, HERC2, LRP4, PACS1, SGCG, PIP5K1C, DOK7, L1CAM, PCNA, ATP5A1, FLNC, ATP1A3, GRM1, ABCC8, DCC, ATXN3, CNBP, SLC1A3, MYH11, IQSEC2, ANK3, HSPG2, NLRP3, SKI, SLC12A3, SYNE2, SIGMAR1, GATA2, PIK3R1

CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, IA, MULTIPLE ENDOCRINE NEOPLASIA IIB, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PORETTI-BOLTSHAUSER SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MANDIBULOACRAL DYSPLASIA, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, CORPUS CALLOSUM, PARTIAL AGENESIS OF, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 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, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, OCULOECTODERMAL SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, NEPHROTIC SYNDROME, TYPE 8, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CREATINE PHOSPHOKINASE, ELEVATED SERUM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MIRROR MOVEMENTS 2, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, LEUKODYSTROPHY, HYPOMYELINATING, 12, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOTONIC DYSTROPHY 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MYOPATHY, MYOFIBRILLAR, 4, BECKER MUSCULAR DYSTROPHY, MIRROR MOVEMENTS 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INFANTILE MYOFIBROMATOSIS 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MYOPATHY, DISTAL, 4, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

ACTA1, LCK, CAV3, PLEC, TTR, RET, CAV1, TRPV4, BIN1, MYH7, DYSF, CD59, PTEN, DNM2, AR, FLNC, FLT4, TGFB1, PIGT, NOS3, PPARG, TPM2, F2, ATP6V1B2, AGT, DMD, LAMA1, MYH11, CDK5, PPP2R1A, PTPN11, FLNA, VPS11, SMC1A, SGCG, HNRNPK, DNMT1, CBL, FGFR1, PNPLA2, LMNA, WAS, AGRN, ITGA3, PIP5K1C, TNNT1, L1CAM, CNBP, ATP5A1, LIMS2, RAD51, SYNE2, NOTCH1, DCC, GJA1, ITGA7, DAG1, KRAS, PRKACA, ARHGDIA, SNAP25, PDGFRB, FHL1, SMAD4, MYH3, HSPG2, NLRP3, KMT2A, DST, BRAF, INS, CTNNB1, KIF1A, CASK, PIK3R1, LDB3

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MYOTUBULAR MYOPATHY, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, TIMOTHY SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, WIEACKER-WOLFF SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, SHORT SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, OCULOECTODERMAL SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, DUCHENNE MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, IA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, PHELAN-MCDERMID SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, FRAGILE X TREMOR/ATAXIA SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, ESCOBAR SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MENTAL RETARDATION, X-LINKED 90, ?MYASTHENIC SYNDROME, CONGENITAL, 17, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, BECKER MUSCULAR DYSTROPHY, MYHRE SYNDROME, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ?MYASTHENIC SYNDROME, CONGENITAL, 18, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, MENTAL RETARDATION, X-LINKED 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, FRONTOMETAPHYSEAL DYSPLASIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

DNM1, GRIN2B, DLG3, CHRNE, FGFR1, CTNNB1, CAV3, SMAD4, CHRNG, ZC4H2, FLT4, PIK3R2, NOS3, RPS6KA3, ANK3, HSPG2, FLNA, CASR, AGT, RYR1, DMD, SYNE1, CHRNA1, CDK5, CASK, CACNA1C, SQSTM1, CHRNB1, HIBCH, ARFGEF2, AGRN, MYO18B, KIF5C, LRP4, CHRND, MYO1E, KLC2, NEFL, RAPSN, L1CAM, INS, PCNA, KIF5A, FMR1, DNM2, GRM1, KIF11, GJA1, ITGA7, DAG1, KRAS, MUSK, PRPH, GRID2, SHANK3, GNAI2, MEGF10, DNM1L, SNAP25, NDUFS7, PTEN, PIK3R1

PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11B, PEROXISOME BIOGENESIS DISORDER 6B, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 14B

PEX12, PEX16, PEX13, PEX11B, PEX3, PEX10, PEX2, PEX19, PEX26

D-BIFUNCTIONAL PROTEIN DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PEROXISOME BIOGENESIS DISORDER 5B, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11B, PEROXISOME BIOGENESIS DISORDER 6B, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, PEROXISOME BIOGENESIS DISORDER 14B, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER

PEX12, PEX16, PEX1, ABCD4, PEX11B, PEX5, PEX10, PEX13, PEX2, PPP2R1A, FAR1, PNPLA8, HSD17B4, PEX19, PEX3, PEX6

LOEYS-DIETZ SYNDROME 5, EMBERGER SYNDROME, TRYPSINOGEN DEFICIENCY, CAMURATI-ENGELMANN DISEASE, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, ID, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOEDEMA, HEREDITARY, TYPES I AND II, BANNAYAN-RILEY-RUVALCABA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MYOPATHY, MYOFIBRILLAR, 2, MARINESCO-SJOGREN SYNDROME, TANGIER DISEASE, FACTOR XIIIA DEFICIENCY, GLYCOGEN STORAGE DISEASE XII, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, MYOFIBRILLAR, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ?MYOPATHY, SCAPULOHUMEROPERONEAL

ACTA1, FLNC, ALDOA, CTNNB1, APOA1, TGFB1, CTCF, NOS3, TGFB3, F2, AGT, GATA2, INSR, CRYAB, SPARC, UCHL1, VEGFC, PTEN, SIL1, PRSS1, F13A1, HSPG2, INS, SERPING1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, MULTIPLE ENDOCRINE NEOPLASIA IIB, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, DANON DISEASE, MIYOSHI MUSCULAR DYSTROPHY 1, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, 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, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, 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, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, PEROXISOME BIOGENESIS DISORDER 14B, IMMUNODEFICIENCY 44, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, 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, POLYMICROGYRIA, BILATERAL FRONTOPARIETAL, 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, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, 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, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, HYPOKALEMIC PERIODIC PARALYSIS 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, OGDEN SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MYASTHENIC SYNDROME, CONGENITAL, 16, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, VAN MALDERGEM SYNDROME 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, KANZAKI DISEASE, LATERAL MENINGOCELE SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, OSTEOGENESIS IMPERFECTA, TYPE XVII, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, 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, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BARTTER SYNDROME, TYPE 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), NEMALINE MYOPATHY 5, AMISH TYPE, FUMARASE DEFICIENCY, NEU-LAXOVA SYNDROME 2, PIERSON SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, 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, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, WRINKLY SKIN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 1, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, 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, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, NEPHROTIC SYNDROME, TYPE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, ?MYASTHENIC SYNDROME, CONGENITAL, 18, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, HYPOMYELINATION, GLOBAL CEREBRAL, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 1, ?IMMUNODEFICIENCY 22, ?AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, 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, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CEROID LIPOFUSCINOSIS, NEURONAL, 3, LEUKODYSTROPHY, HYPOMYELINATING, 9, LYMPHEDEMA, HEREDITARY, ID, LEUKODYSTROPHY, HYPOMYELINATING, 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, GITELMAN SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, TRYPSINOGEN DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MENTAL RETARDATION, AUTOSOMAL DOMINANT 1, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, TRANSCOBALAMIN II DEFICIENCY, AU-KLINE SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 10, WARBURG MICRO SYNDROME 3, GLYCOGEN STORAGE DISEASE IV, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, ANGIOEDEMA, HEREDITARY, TYPE III, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, 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, PORETTI-BOLTSHAUSER SYNDROME, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, ?MENTAL RETARDATION, X-LINKED 91, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, CAPOS SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MIYOSHI MUSCULAR DYSTROPHY 3, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI RENOTUBULAR SYNDROME 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, LEBER OPTIC ATROPHY, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, BETHLEM MYOPATHY 1, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, FACTOR VII DEFICIENCY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, AL-RAQAD SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOTONIC DYSTROPHY 1, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, BANNAYAN-RILEY-RUVALCABA SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, ANGIOEDEMA, HEREDITARY, TYPES I AND II, LEUKODYSTROPHY, HYPOMYELINATING, 12, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 17, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, KOSAKI OVERGROWTH SYNDROME, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, MYOPATHY, DISTAL, 4, SINGLETON-MERTEN SYNDROME 2, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MCARDLE DISEASE, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MYOPATHY, MYOFIBRILLAR, 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), {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, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, RITSCHER-SCHINZEL SYNDROME 2, MULTIPLE SULFATASE DEFICIENCY, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, TRANSALDOLASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, 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, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LEBER OPTIC ATROPHY AND DYSTONIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, 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, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MAST SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPINOCEREBELLAR ATAXIA 36, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, GM2-GANGLIOSIDOSIS, AB VARIANT, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, 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), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, VAN MALDERGEM SYNDROME 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HYPOMAGNESEMIA 2, RENAL, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, POLYGLUCOSAN BODY MYOPATHY 2, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, ?MYOSCLEROSIS, CONGENITAL, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, HYPEREKPLEXIA 3, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, OSTEOGENESIS IMPERFECTA, TYPE XIII, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, ?MYOFIBROMATOSIS, INFANTILE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?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, AMYOTROPHIC LATERAL SCLEROSIS 8, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, GLYCOGEN STORAGE DISEASE X, NEPHROTIC SYNDROME, TYPE 6, ?SPASTIC PARAPLEGIA 63, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, 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, BRODY MYOPATHY, ?GLYCOGEN STORAGE DISEASE XIII, ?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, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, NONAKA MYOPATHY

DCHS1, CHMP2B, FGFR1, CLN3, VARS2, SLC34A1, CUL3, COL3A1, SPG21, POLD1, TRMT10A, SPARC, VMA21, UBA1, NSDHL, DST, ITGA3, FH, DNM2, TTN, ARFGEF2, WNK1, TNXB, GTPBP3, MAFB, PTEN, PHKB, SCN4A, F13A1, APOA1, CHMP1A, KIF21A, ENO3, GNAS, THRA, C2, DAG1, ABAT, ASAH1, PEX6, ALAD, CD27, MRE11A, AIFM1, KIF1BP, CBL, TNNT1, AP1S2, BMP1, VEGFC, MT-CYB, NDUFA1, XPNPEP3, FXYD2, NDUFA10, GAMT, SLC12A1, CAV3, BANF1, CCDC22, ALDOA, OAT, CTNNB1, SSR4, SMAD4, BCS1L, CHST14, RAD51, TPM2, CTSD, PQBP1, PPP2R1A, CHRNA1, TPI1, LRPPRC, STAMBP, TANGO2, NPHS1, VPS13A, KIF11, PTPRO, CTNS, PEX13, GNE, MBD5, LAMP2, MUSK, SPINK5, MTM1, CUL4B, SLC6A5, FGF23, HINT1, HNRNPK, CD59, LAMA2, PIK3R2, PTPN11, GMPPA, RARS, VPS11, SOD1, COL6A1, LIPE, PTRH2, B4GALT1, ZMPSTE24, GRIN2B, CHAT, ATXN3, SARS2, GM2A, SIGMAR1, DMPK, NDUFS2, FSHB, TRIM32, CYBA, KMT2A, LARS, PLEKHG5, NAA10, MT-CO2, PGAM2, PGK1, MOCS2, COL1A2, AP4B1, ASCC1, ECHS1, ACY1, UBE2A, MYH7, NDUFS4, SLC25A1, AR, BAG3, DES, MT-CO3, PRF1, ARHGDIA, USP8, CAPN3, RBCK1, GNAI2, KIF1A, VAPB, NDE1, ANO5, ALS2, NOTCH1, ATP2A1, NAGA, GPI, MEF2C, C9orf72, CFL2, SGCG, MYO18B, KIF5C, GK, WWOX, EARS2, MYOM1, NRAS, HARS, ATP6V1B2, NLRC4, RAB18, BRAF, SNAP25, DMD, NCF1, NDUFB3, DNM1, MT-ATP6, TTC19, FLT4, GRM1, UBR1, CTCF, KLC2, GMPPB, PEX11B, SMC1A, PLEC, VDR, COQ9, SOX18, MYH2, KCNH1, DYNC1H1, MT-ND3, SCYL1, NDUFV1, COG4, COL6A2, DLG3, CYBB, AIMP1, SLC12A6, B3GAT3, TGFB1, PIP5K1C, VCP, MTR, CACNA1C, HADHA, COL6A3, NDUFB9, DNMT1, CRYAB, PCNA, ITPA, DHFR, ATP1A3, HSPG2, NLRP3, C10orf2, PEX5, LMNA, F2, LAMA1, MYH14, GAA, F7, SQSTM1, HEXB, AP2S1, MAG, AGT, PMM2, CDK5, PPP1R3A, SMN2, NEB, FMR1, PNPLA2, LAMB2, NOP56, PIK3CA, LTBP4, HNRNPA1, ABCA1, SERPING1, CNBP, TBK1, GRID2, PRSS1, NUBPL, ACTA1, VRK1, ACVR1, GBE1, HTR1A, GCLC, PGM1, NOS3, GATA2, KIF5A, ALDH6A1, GFPT1, PLOD1, PLOD3, PSMB8, ERLIN2, APTX, TALDO1, SUCLA2, EEF1A2, DSE, FKBP14, TMEM173, NDUFA9, MPC1, RPS6KA3, TFG, INS, ABCC8, PFKM, DDX3X, TNPO3, HSD17B10, SDHD, SLC22A5, LMX1B, CNTN1, GALNT14, BICD2, SLC9A6, RAPSN, LTBP2, TNFRSF1A, TUBB3, PSAP, SMS, ATP5A1, MT-ND1, DCTN1, DNA2, HNRNPDL, MTAP, TRPM7, ACADSB, NONO, TRPV4, POLG2, STAT2, FAH, F12, NDUFS3, MT-ND4, FAT4, MED25, ANK3, WAS, POMT1, MYO1E, GATM, HERC2, SLC1A4, SUCLG1, ABCC9, SCN11A, SERPINA6, CACNA1S, UCHL1, TCN2, F10, POLG, AGPAT2, NDUFB11, SLC25A12, SLC12A3, TUFM, REEP2, CAV1, ATP2B3, PRPH, PABPN1, PIGT, GLB1, PPARG, COL5A1, AGL, HIBCH, BTK, NEU1, ALG2, SCN8A, AARS, PDGFRB, CECR1, EMD, MT-ND2, ATP6V0A2, MATR3, RRM2B, TAF1, FBLN5, LYST, TPM3, NPHS2, TARDBP, GYG1, LIFR, MRPL44, AGRN, GYS1, NCF2, SLC4A1, AP1S1, NDUFA2, NOTCH3, SLC7A7, SPATA5, NDUFS7, QARS, TTR, RET, GNA11, GJA1, DCPS, DYSF, MYH3, COL4A1, LDHA, SGCA, MECP2, CASR, GCK, PYGM, KRAS, TUBB2A, HADHB, DCC, NDUFS1, DDX58, NEFL, AMPD2, COASY, PSAT1, SIL1, ZDHHC15, SHANK3, DDOST, PNPT1, GJB1, GUSB, SUMF1, LCK, GLE1, FLNA, BIN1, ACACA, ENTPD1, SPG11, CASK, EXT2, PRKACA, INSR, ADGRG1, DIAPH1, SLC25A32, PACS1, SLC16A1, MARS, GLA, PDGFRA, L1CAM, OPA1, FBN1, FLNC, PEX19, HACE1, EXOSC3, ITGA7, MPDU1, MYH11, B4GAT1, MTRR, KRIT1, RYR1, PIK3R1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, BARTTER SYNDROME, TYPE 2, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, MULTIPLE ENDOCRINE NEOPLASIA IIB, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 19, DANON DISEASE, MIYOSHI MUSCULAR DYSTROPHY 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, BOUCHER-NEUHAUSER SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, CHOANAL ATRESIA AND LYMPHEDEMA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, HELSMOORTEL-VAN DER AA SYNDROME, MEND SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, CK SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, IMMUNODEFICIENCY 44, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, LEBER OPTIC ATROPHY, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, JOUBERT SYNDROME 15, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, KEPPEN-LUBINSKY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, WELANDER DISTAL MYOPATHY, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, GLYCOGEN STORAGE DISEASE IA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), WARBURG MICRO SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, HYPOKALEMIC PERIODIC PARALYSIS 1, MYOPATHY, MYOFIBRILLAR, 4, AU-KLINE SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, BARTTER SYNDROME, TYPE 4B, DIGENIC, CORNELIA DE LANGE SYNDROME 5, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, 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, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, VAN MALDERGEM SYNDROME 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY, HYPERALDOSTERONISM, FAMILIAL, TYPE III, ?MICROHYDRANENCEPHALY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, PEROXISOME BIOGENESIS DISORDER 14B, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AD, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, CPT DEFICIENCY, HEPATIC, TYPE IA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, MUSCULAR DYSTROPHY, RIGID SPINE, 1, COENZYME Q10 DEFICIENCY, PRIMARY, 3, LATERAL MENINGOCELE SYNDROME, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, WHITE-SUTTON SYNDROME, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, NETHERTON SYNDROME, CHEDIAK-HIGASHI SYNDROME, COLE DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, SHPRINTZEN-GOLDBERG SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BARTTER SYNDROME, TYPE 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MACHADO-JOSEPH DISEASE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, NEMALINE MYOPATHY 5, AMISH TYPE, FUMARASE DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 11, STORMORKEN SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MYOPATHY, SPHEROID BODY, 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, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, MULIBREY NANISM, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, WRINKLY SKIN SYNDROME, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, MYOPATHY, MYOFIBRILLAR, 1, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, HYPOMAGNESEMIA 6, RENAL, TROYER SYNDROME, 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, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, OPTIC ATROPHY PLUS SYNDROME, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, MUSCULAR DYSTROPHY, CONGENITAL, MYASTHENIC SYNDROME, CONGENITAL, 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, NEPHROTIC SYNDROME, TYPE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, ?MYASTHENIC SYNDROME, CONGENITAL, 18, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, BECKER MUSCULAR DYSTROPHY, IMMUNODEFICIENCY 23, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, ?IMMUNODEFICIENCY 22, ?AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, 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, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, ?ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CEROID LIPOFUSCINOSIS, NEURONAL, 3, MYOPATHY, MYOFIBRILLAR, 3, LEUKODYSTROPHY, HYPOMYELINATING, 9, LYMPHEDEMA, HEREDITARY, ID, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, GITELMAN SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, AMYOTROPHIC LATERAL SCLEROSIS 17, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, CAPOS SYNDROME, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, FACTOR XIIIA DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, TRANSCOBALAMIN II DEFICIENCY, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CPT II DEFICIENCY, LETHAL NEONATAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, MYOTONIA CONGENITA, DOMINANT, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, WARBURG MICRO SYNDROME 3, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, CAMURATI-ENGELMANN DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, MYOPATHY, CENTRONUCLEAR, 4, NEPHROTIC SYNDROME, TYPE 9, MYASTHENIC SYNDROME, CONGENITAL, 10, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, COCKAYNE SYNDROME, TYPE B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, ANGIOEDEMA, HEREDITARY, TYPE III, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, PORETTI-BOLTSHAUSER SYNDROME, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), MYOPATHY, DISTAL, 4, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, EPISODIC ATAXIA/MYOKYMIA SYNDROME, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MYOPATHY, DISTAL, TATEYAMA TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, MULTIPLE SULFATASE DEFICIENCY, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, COCKAYNE SYNDROME, TYPE A, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIO, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MIYOSHI MUSCULAR DYSTROPHY 3, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, BARTH SYNDROME, PHELAN-MCDERMID SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SHORT SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, LEUKODYSTROPHY, HYPOMYELINATING, 5, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, FACTOR VII DEFICIENCY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, GLYCOGEN STORAGE DISEASE XI, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, BANNAYAN-RILEY-RUVALCABA SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, ANGIOEDEMA, HEREDITARY, TYPES I AND II, ?JOUBERT SYNDROME 26, LEUKODYSTROPHY, HYPOMYELINATING, 12, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MIRROR MOVEMENTS 1, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, HYPOMAGNESEMIA 1, INTESTINAL, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 11, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, KOSAKI OVERGROWTH SYNDROME, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, SINGLETON-MERTEN SYNDROME 2, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MCARDLE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MYOPATHY, MYOFIBRILLAR, 2, BARTTER SYNDROME, TYPE 3, PEROXISOME BIOGENESIS DISORDER 6B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYHRE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, MYOTONIA CONGENITA, RECESSIVE, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, ESCOBAR SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE 2, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, NEPHROTIC SYNDROME, TYPE 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 17, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, LEUKODYSTROPHY, HYPOMYELINATING, 3, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, PROLIFERATIVE VASCULOPATHY AND HYDRAENCEPHALY-HYDROCEPHALY SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, BROWN-VIALETTO-VAN LAERE SYNDROME 1, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, LYSINURIC PROTEIN INTOLERANCE, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, GALLOWAY-MOWAT SYNDROME, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, TRANSALDOLASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPERCALCEMIA, INFANTILE, SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, MYOPATHY, TUBULAR AGGREGATE, 1, LYMPHEDEMA, HEREDITARY, III, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, MENTAL RETARDATION, X-LINKED 99, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LEBER OPTIC ATROPHY AND DYSTONIA, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), {AUTISM, SUSCEPTIBILITY TO, X-LINKED 4}, VLCAD DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COENZYME Q10 DEFICIENCY, PRIMARY, 7, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?SPASTIC PARAPLEGIA 63, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, 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, MAST SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, SPINOCEREBELLAR ATAXIA 36, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C, 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, KOOLEN-DE VRIES SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, LYMPHOPROLIFERATIVE SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, 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, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, VAN MALDERGEM SYNDROME 1, IVIC SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HYPOMAGNESEMIA 2, RENAL, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, 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, HEMOCHROMATOSIS, TYPE 2A, POLYGLUCOSAN BODY MYOPATHY 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OLIVER-MCFARLANE SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, ?MYOSCLEROSIS, CONGENITAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, HYPEREKPLEXIA 3, EPISODIC ATAXIA, TYPE 6, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, OSTEOGENESIS IMPERFECTA, TYPE XIII, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, IMMUNODEFICIENCY 10, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, ?MYOFIBROMATOSIS, INFANTILE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 8, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, INFANTILE MYOFIBROMATOSIS 1, JOUBERT SYNDROME 14, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, MYOPATHY DUE TO CPT II DEFICIENCY, CARDIOMYOPATHY, DILATED, 1X, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, LOEYS-DIETZ SYNDROME 5, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, CEROID LIPOFUSCINOSIS, NEURONAL, 10, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, 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, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ATAXIA-OCULOMOTOR APRAXIA 4, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ATAXIA-OCULOMOTOR APRAXIA 3, ?SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEPHROTIC SYNDROME, TYPE 6, BRODY MYOPATHY, ?GLYCOGEN STORAGE DISEASE XIII, ?MYOPATHY, SCAPULOHUMEROPERONEAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, NONAKA MYOPATHY

DCHS1, CHMP2B, GNAI2, GPI, CLN3, VARS2, SLC34A1, ACADS, GNA11, NALCN, CUL3, COL3A1, SPG21, ENPP1, SDHA, SPARC, VMA21, UBA1, NSDHL, TRIP4, PTPN14, DST, ITGA3, DPM2, FH, AGK, G6PC, POMGNT1, ARFGEF2, WNK1, SBF1, CCDC78, MYO18B, MAFB, TRMT5, ANO10, NONO, PHKB, SCN4A, TRPV4, APOA1, MEGF10, NDUFAF3, SPINK5, KIF21A, ENO3, NDUFA1, GNAS, THRA, C2, DAG1, ASAH1, MT-ND6, SYNE1, PEX6, PGM1, AMER1, MARS2, MYOM1, MRE11A, AIFM1, KIF1BP, CBL, KCNJ1, TALDO1, SUCLA2, AP1S2, BMP1, VEGFC, UBR1, MT-CYB, ABCD4, ATP6V1B2, KRAS, PSAP, PNPLA6, KMT2A, NDUFA10, NDUFS7, MT-CO1, CAV3, BANF1, ALDOA, AGL, HSPB3, CTNNB1, NDUFS3, SCO2, XYLT2, BCS1L, SMAD4, PIGY, CHST14, SLC4A1, TPM2, NECAP1, CTDP1, CTSD, NARS2, COLQ, PPP2R1A, PNKP, FLVCR1, CPT2, TPI1, AIP, LRPPRC, RAD51, HDAC8, TANGO2, NPHS1, COX15, KIF11, PTPRO, PEX13, STAMBP, GNE, FAR1, LAMP2, MUSK, CHMP1A, MTM1, REEP1, CUL4B, DPM1, SLC6A5, FGF23, HINT1, IGHMBP2, HNRNPK, SEPN1, UNC80, HGSNAT, PIGN, LAMA2, PIK3R2, PTPN11, PEX12, B4GALT1, FMN2, DMPK, MT-CO2, SOD1, COL6A1, RBM28, LIPE, FKTN, FKRP, PTRH2, ZMPSTE24, CLCNKB, ERCC6, GRIN2B, CTNS, MICU1, POMK, ATXN3, TMEM43, TCAP, SIGMAR1, RARS, SKI, B3GALNT2, DNM2, CYBA, LRP4, QARS, PLEKHG5, NAA10, VPS11, KIF1C, PGK1, COL1A2, GBA2, DNM1, AP4B1, TMEM237, COX6A1, ASCC1, NLRC4, ECHS1, ACY1, UBE2A, ADGRG6, NDUFS4, HADH, KCNA1, SLC25A1, AR, BAG3, PGAP1, DES, MT-CO3, PRF1, KCNT1, ARHGDIA, USP8, COQ2, CAPN3, RBCK1, AARS2, KIF1A, COX8A, FIG4, SLC33A1, VAPB, DOK7, SCN11A, SGCD, CLCNKA, ANO5, SGCA, NOTCH1, ATP2A1, PTRF, SACS, FGFR1, MEF2C, SLC29A3, CFL2, SGCG, EXOSC8, KIF5C, GK, WWOX, EARS2, SPRED1, KLC2, NRAS, SYT2, HARS, TAZ, RAB18, BRAF, SNAP25, NCF1, STIM1, UCHL1, NDUFB3, MYOT, MT-ATP6, TTC19, KCNJ5, DNAJB6, FLT4, GRM1, SNIP1, CYP27B1, MRPS16, GMPPB, PEX11B, ABCG5, TMEM70, B4GALNT1, SMC1A, KANSL1, VDR, FOXP1, COQ9, COX10, COG4, BSND, PSMB8, SARS2, HK1, MYH2, KCNH1, DYNC1H1, MT-ND3, SCYL1, NDUFV1, NBAS, MYO1E, COL6A2, DLG3, CHRNE, CYBB, AIMP1, NDUFS1, SLC12A6, B3GAT3, FAM126A, SLC39A8, PIP5K1C, VCP, ZFYVE26, SLC52A3, CACNA1C, SCO1, HADHA, COL6A3, ADCK4, PEX3, NDUFB9, DNMT1, TRIM37, PEX10, PUS1, PCNA, ATP1A3, DHFR, PMPCA, PEX16, SLC25A20, HSPG2, EXT2, SURF1, C10orf2, SYNE2, PEX5, LMNA, F2, TNFRSF1A, LAMA1, MYH14, FSHB, SLC25A46, ADSL, GAA, F7, SQSTM1, HEXB, AP2S1, MAG, AGT, VPS53, KCNJ6, CDK5, PPP1R3A, LMNB2, ERCC8, SMN2, NEB, PIGC, KIAA0556, CCDC115, FMR1, SALL4, PNPLA2, NOP56, PIK3CA, HNRNPA1, GFPT1, SERPING1, CD59, CNBP, TBK1, GRID2, BVES, NUBPL, ACTA1, VRK1, ACVR1, PLEC, HTR1A, NDUFAF6, COQ4, GCLC, NDUFAF4, PLCE1, NOS3, TIA1, GATA2, KIF5A, AP4S1, ABCA1, PLOD1, PLOD3, ORAI1, ERLIN2, APTX, POGZ, LRSAM1, MPC1, DNM1L, TNNT1, EEF1A2, DSE, NDUFS2, ABCG8, CLCN1, GTPBP3, TMEM173, UQCRQ, NDUFA9, CASQ1, AAAS, COX14, RPS6KA3, TFG, INS, ABCC8, PGAP2, ATL1, PFKM, DDX3X, TNPO3, PEX1, HSD17B10, VPS37A, SDHD, SLC22A5, SLC25A19, LMX1B, CNTN1, TXN2, BICD2, SLC9A6, RAPSN, UQCC2, FKBP14, CNNM2, BIN1, PTCHD1, FHL1, FOXC2, ATP5A1, MT-ND1, USP9X, DCTN1, DNA2, POLD1, MCCC1, TRPM7, ACADSB, PTEN, F13A1, PIK3R5, STAT2, TK2, CHRND, SLC13A5, FAH, F12, SSR4, PDSS2, MYH7, PRICKLE2, CLDN16, MT-ND4, FAT4, PMP22, MED25, ANK3, NEFL, TGFB1, WAS, POMT1, TCF4, PGAP3, TRPM6, GATM, HERC2, SLC1A4, SUCLG1, ABCC9, MFSD2A, CACNA1S, SLC35A3, LIMS2, TCN2, MT-ND4L, TMEM165, F10, POLG, NDUFS6, ADNP, CD27, FXYD2, AGPAT2, NDUFB11, SLC25A12, SLC12A1, SLC12A3, TMEM199, TUFM, REEP2, CASK, ISCU, NEU1, CAV1, ATP2B3, DNAJC19, PRPH, CHRNG, PABPN1, NDUFA11, PIGT, COQ7, EBP, GLB1, SLC1A3, RNASEH1, PPARG, COL5A1, OAT, HIBCH, ELAC2, SLC35A2, BTK, SLC25A22, COX6B1, IBA57, SGCB, NDUFS8, ALG2, COX20, SCN8A, AARS, AFG3L2, COL13A1, PDGFRB, CECR1, NDUFA12, EMD, POU1F1, MT-ND2, ATP6V0A2, RRM2B, CYP2R1, FBLN5, SLC25A32, PNPLA8, LYST, PIEZO1, LPIN1, TPM3, EPHX1, PIGG, NPHS2, TARDBP, GYG1, CPT1A, SPG20, CTCF, POMGNT2, MRPL44, AGRN, GYS1, CRYAB, NCF2, SLC35C1, TAF1, AP1S1, NDUFA2, CLPB, POMT2, NOTCH3, SLC7A7, NDST1, OPA1, PROKR2, TRIM32, CYP24A1, TBC1D20, ADCY5, SPATA5, MATR3, LARS, TTR, RET, KCNJ11, PQBP1, GJA1, DYSF, MYH3, COL4A1, LDHA, SFXN4, MECP2, TRDN, TGFB3, CASR, DMD, CHRNA1, PYGM, TRIM2, NDE1, TUBB2A, HADHB, HACE1, SLC25A26, DDX58, ACO2, PGM3, SLC25A4, AMPD2, COASY, PHKA1, SIL1, TUBB3, LDB3, SHANK3, DDOST, PNPT1, LYRM4, GJB1, GUSB, SUMF1, LCK, GLE1, FLNA, FZD6, ACACA, ALDH18A1, HSD17B4, FLNC, CEP41, SLC34A3, ENTPD1, SPG11, SLC39A13, IER3IP1, C19orf12, PRKACA, INSR, KIAA0196, SCN9A, NDUFV2, DIAPH1, FLVCR2, ZNF592, PACS1, SLC16A1, MARS, PDGFRA, L1CAM, MT-ND5, FBN1, DPAGT1, PEX19, GALNT14, DCC, ACADVL, EXOSC3, ITGA7, MPDU1, MYH11, PEX2, B4GAT1, PIK3R1, MTRR, KRIT1, RYR1, HFE2

PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11B, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), MALONYL-COA DECARBOXYLASE DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PEROXISOME BIOGENESIS DISORDER 6B, MULIBREY NANISM, CK SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, PEROXISOME BIOGENESIS DISORDER 14B, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), XANTHINURIA, TYPE I, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE

PEX1, PEX26, SOD1, HSD17B4, PEX6, PEX12, PEX11B, AGT, HADHB, NSDHL, CTNNB1, PEX16, PEX3, PEX10, PNPLA8, DNM1L, MLYCD, PEX19, TMEM173, PEX13, ABCD4, XDH, PEX5, NDUFS2, TRIM37, DHFR, FAR1, PIK3R1

D-BIFUNCTIONAL PROTEIN DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, PEROXISOME BIOGENESIS DISORDER 5B, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11B, PEROXISOME BIOGENESIS DISORDER 6B, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, PEROXISOME BIOGENESIS DISORDER 14B, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER

PEX12, PEX16, PEX1, ABCD4, PEX11B, PEX5, PEX10, PEX13, PEX2, PPP2R1A, FAR1, PNPLA8, HSD17B4, PEX19, PEX3, PEX6

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PSEUDOHYPOALDOSTERONISM, TYPE 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, OCULODENTODIGITAL DYSPLASIA, CPT DEFICIENCY, HEPATIC, TYPE IA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OCULOECTODERMAL SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, TRIFUNCTIONAL PROTEIN DEFICIENCY, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, PERIODIC FEVER, FAMILIAL, TROYER SYNDROME, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, MENTAL RETARDATION, X-LINKED 102, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, OPTIC ATROPHY PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, FRONTOMETAPHYSEAL DYSPLASIA, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, STIFF SKIN SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, 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, MARFAN LIPODYSTROPHY SYNDROME, GLYCEROL KINASE DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, ?AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOTONIC DYSTROPHY 1

NDUFS3, DDX3X, PLEC, GK, CDK5, AR, CUL3, COASY, CYP27B1, FLNA, HADHB, SYNE1, BCS1L, TUBB3, KRAS, SPG20, SLC25A32, LRPPRC, CPT1A, FBN1, OPA1, DNM1L, PEX19, TNFRSF1A, TMEM173, GJA1, EMD, PEX5, HK1, SYNE2, SIGMAR1, DMPK, NDUFS2

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, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, BARTTER SYNDROME, TYPE 2, SHORT SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, ZIMMERMANN-LABAND SYNDROME 1, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EPISODIC ATAXIA/MYOKYMIA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAPOS SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, LEBER OPTIC ATROPHY, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, KEPPEN-LUBINSKY SYNDROME, HYPOMAGNESEMIA 2, RENAL, NON-IMMUNE HYDROPS FETALIS, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, TIMOTHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CREATINE PHOSPHOKINASE, ELEVATED SERUM, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, DUCHENNE MUSCULAR DYSTROPHY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, HYPOKALEMIC PERIODIC PARALYSIS 1, BECKER MUSCULAR DYSTROPHY, BARTTER SYNDROME, TYPE 4B, DIGENIC, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MYASTHENIC SYNDROME, CONGENITAL, 16, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, 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, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MYOPATHY, DISTAL, 4, HYPERALDOSTERONISM, FAMILIAL, TYPE III, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ESCOBAR SYNDROME, ?SPASTIC PARAPLEGIA 63, BARTTER SYNDROME, TYPE 3, MYOTONIA CONGENITA, RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MYOTONIA CONGENITA, DOMINANT, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

PEX5, CAV3, KCNJ5, FLNC, CAV1, TNFRSF1A, KIF5A, SCN11A, CLCNKA, CHRNG, BCS1L, LDHA, SQSTM1, KLC2, TGFB1, NOS3, ATP2A1, DLG3, AGT, CASK, KCNJ6, CHRNA1, MT-CO2, CACNA1C, CHRNE, KCNJ11, CLCN1, FLNA, SCN9A, ARFGEF2, SCN8A, ITGA7, ABHD12, DMPK, KIF5C, SCN4A, MECP2, KCNJ1, KCNA1, CPT1A, ABCC9, ANK3, ATP1A3, L1CAM, CLCNKB, GRIN2B, ABCD4, CHRNB1, SNAP25, BSND, CACNA1S, MT-CYB, AMPD2, KCNT1, PRKACA, MUSK, PCNA, KCNH1, GRID2, CNTN1, FXYD2, PIK3R1, CHRND, INS, ABCC8, MICU1, DMD, MT-CO1

NEMALINE MYOPATHY 9, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, CAMURATI-ENGELMANN DISEASE, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, COCKAYNE SYNDROME, TYPE A, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 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, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MACHADO-JOSEPH DISEASE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, MANDIBULOACRAL DYSPLASIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, JOHANSON-BLIZZARD SYNDROME, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAPOS SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, PITUITARY DEPENDENT HYPERCORTISOLISM, SPINOCEREBELLAR ATAXIA 36, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRONTOMETAPHYSEAL DYSPLASIA, NEPHROTIC SYNDROME, TYPE 8, LEBER OPTIC ATROPHY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, PEROXISOME BIOGENESIS DISORDER 5B, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, KOOLEN-DE VRIES SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MENTAL RETARDATION, X-LINKED 98, HYPOMAGNESEMIA 2, RENAL, NON-IMMUNE HYDROPS FETALIS, ?INFANTILE LIVER FAILURE SYNDROME 1, HEART-HAND SYNDROME, SLOVENIAN TYPE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, LEBER OPTIC ATROPHY AND DYSTONIA, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MIRROR MOVEMENTS 2, GLYCOGEN STORAGE DISEASE IXC, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MYOTONIC DYSTROPHY 2, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, CORNELIA DE LANGE SYNDROME 5, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, OGDEN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GLYCOGEN STORAGE DISEASE VII, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, GABA-TRANSAMINASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, MYOPATHY, DISTAL, 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, INFANTILE CEREBELLAR-RETINAL DEGENERATION, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, MYOFIBRILLAR, 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, 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, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, GLYCOGEN STORAGE DISEASE 0, MUSCLE, PSEUDOHYPOALDOSTERONISM, TYPE 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ATAXIA-OCULOMOTOR APRAXIA 3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ?GLYCOGEN STORAGE DISEASE XIII, ?MYOPATHY, SCAPULOHUMEROPERONEAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, BRODY MYOPATHY, AU-KLINE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4

SOD1, CYBA, SMN2, VARS2, NCF1, CNBP, NDUFA11, CUL3, KLHL3, NDUFA1, AGT, POLD1, PPARG, CDK5, PIGT, ASCC1, DNAH14, ERCC8, UBE2A, PIGC, DST, ERCC6, NDUFB11, NDUFS8, NOP56, PIK3CA, NOTCH1, EMD, NDUFA12, ARHGDIA, PRKAG2, RBCK1, GNAI2, CTNNB1, MUSK, ACTA1, PHKB, ACVR1, KRAS, GCLC, AR, ENO3, PGK1, CHAMP1, THRA, LPIN1, TPM3, TSEN2, NOS3, SQSTM1, MECP2, GFPT1, SUCLG1, MRE11A, CBL, MT-ND2, NCF2, TAF1, TNFRSF1A, GTPBP3, MT-CYB, ABCD4, NDUFA9, FBXL4, PCNA, KLHL41, FXYD2, KMT2A, NDUFA10, INS, ABCC8, LARS, PFKM, AGL, NDUFB3, SMAD4, SDHD, RAD51, UBR1, GYS1, CTDP1, NDUFS7, PPP1R3A, BCS1L, PPP2R1A, GRIN2B, NAA10, NDUFA2, CYBB, KANSL1, VDR, FHL1, VCP, HINT1, ACO2, ATP1A3, MT-ND1, DCTN1, DNA2, KIF11, DPM2, KAT6A, NONO, PIK3R5, KIAA2022, DDOST, PNPT1, DYNC1H1, MT-ND3, NDUFV1, NDUFS3, CUL4B, NDUFAF1, FLNA, SDHA, BIN1, HDAC8, NDUFS1, HNRNPK, MT-ND4, MYH3, PHKG2, PIK3R2, MED25, LMNA, TGFB1, WAS, PRKACA, CACNA1C, INSR, PTPN11, NDUFS4, CLPB, NDUFV2, NDUFB9, DNMT1, BRAF, DPM1, MARS, ATP2A1, CRYAB, MT-ND5, NDUFS6, FLNC, MT-ND4L, PTEN, POLG, ATXN3, AGPAT2, PEX2, NDUFS2, TUFM, ABAT, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, SINGLETON-MERTEN SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 102, LYSINURIC PROTEIN INTOLERANCE, MEDNIK SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, WIEDEMANN-STEINER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, 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, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, HYPEREKPLEXIA 3, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, PORETTI-BOLTSHAUSER SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, MYOPATHY, TUBULAR AGGREGATE, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, AGAMMAGLOBULINEMIA, X-LINKED 1, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, BOUCHER-NEUHAUSER SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EPISODIC ATAXIA/MYOKYMIA SYNDROME, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, FRONTOMETAPHYSEAL DYSPLASIA, STORMORKEN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, TIMOTHY SYNDROME, COWCHOCK SYNDROME, MANDIBULOACRAL DYSPLASIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, COLE DISEASE, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, SHPRINTZEN-GOLDBERG SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SITOSTEROLEMIA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MEND SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CAPOS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?IMMUNODEFICIENCY 22, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MIYOSHI MUSCULAR DYSTROPHY 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, PITUITARY DEPENDENT HYPERCORTISOLISM, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CK SYNDROME, PHELAN-MCDERMID SYNDROME, SPINOCEREBELLAR ATAXIA 36, SPONDYLOOCULAR SYNDROME, CHOANAL ATRESIA AND LYMPHEDEMA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, LYMPHEDEMA, HEREDITARY, III, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI RENOTUBULAR SYNDROME 2, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, OSSEOUS HETEROPLASIA, PROGRESSIVE, NEPHROTIC SYNDROME, TYPE 8, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, OCULOECTODERMAL SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, MALOUF SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES, TYPE A, 8, HYPOMAGNESEMIA 6, RENAL, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, WHITE-SUTTON SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, LYSYL HYDROXYLASE 3 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, HYPOMAGNESEMIA 2, RENAL, NON-IMMUNE HYDROPS FETALIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, BARTTER SYNDROME, TYPE 1, PSEUDOHYPOALDOSTERONISM, TYPE 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, KOSAKI OVERGROWTH SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, LYMPHEDEMA, HEREDITARY, IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, WARBURG MICRO SYNDROME 4, GLYCOGEN STORAGE DISEASE IA, NEPHROTIC SYNDROME, TYPE 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?ARTHROGRYPOSIS, MENTAL RETARDATION, AND SEIZURES, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOKALEMIC PERIODIC PARALYSIS 1, IMMUNODEFICIENCY 10, TANGIER DISEASE, OLIVER-MCFARLANE SYNDROME, MYOPATHY, MYOFIBRILLAR, 4, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, BECKER MUSCULAR DYSTROPHY, ?MYOFIBROMATOSIS, INFANTILE 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, CORNELIA DE LANGE SYNDROME 5, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, HYPOMAGNESEMIA 1, INTESTINAL, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, GLYCOGEN STORAGE DISEASE VII, ?MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYASTHENIC SYNDROME, CONGENITAL, 16, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, AMYOTROPHIC LATERAL SCLEROSIS 8, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NAIL-PATELLA SYNDROME, INFANTILE MYOFIBROMATOSIS 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, GLYCOGEN STORAGE DISEASE XI, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, CLOVE SYNDROME, SOMATIC, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, NEPHROTIC SYNDROME, TYPE 6, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, MUSCULAR DYSTROPHY, RIGID SPINE, 1, PERIODIC FEVER, FAMILIAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LATERAL MENINGOCELE SYNDROME, LYMPHEDEMA, HEREDITARY, ID, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, LEPRECHAUNISM, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 3, GITELMAN SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, HYPOMAGNESEMIA 3, RENAL, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, NETHERTON SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CHEDIAK-HIGASHI SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, ?SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, BRODY MYOPATHY, AU-KLINE SYNDROME

POGZ, SLC34A1, PGAP1, CAV1, EPHX1, CLN3, FBN1, SOD1, PLOD1, NOP56, PRPH, POMT1, F7, AGRN, TTR, PGK1, PIK3CA, COL1A2, GBA2, F2, ANO5, AGT, PPARG, CDK5, PIGT, ASCC1, PTPRO, UBA1, SLC13A5, NSDHL, GJA1, BTK, PIGC, CFL2, PTPN14, KCNA1, LIPE, ITGA3, RAPSN, PTRF, PNPLA2, AIMP1, DNM2, DES, ALG2, TRIM32, PIP5K1C, PRF1, WAS, EMD, PDGFRB, TTC19, TBK1, CPT1A, ARHGDIA, PIGG, POMGNT2, CTNNB1, CTSD, LDB3, CYP2R1, ACTA1, SLC33A1, VAPB, PIGY, SCN4A, MYOM1, KRAS, APOA1, CBL, CUL3, CAPN3, AR, DPAGT1, SLC34A3, FLT4, NOS3, AGPAT2, ATP2A1, VMA21, PIEZO1, DAG1, LPIN1, RYR1, FGFR1, POU1F1, NPHS2, KCNJ11, LAMA1, PGM1, BIN1, DDOST, ABCA1, SGCG, EXOSC8, DMPK, KIF5C, MEGF10, PLOD3, GNAI2, EARS2, UCHL1, SPRED1, AIFM1, EBP, PNPLA8, GNAS, SYNE2, G6PC, SUCLA2, ATL1, VEGFC, AP1S1, WWOX, FKBP14, TMEM173, CACNA1S, DDX3X, ABCD4, KRIT1, NOTCH3, SCYL1, SLC7A7, FGF23, TALDO1, CLDN16, RPS6KA3, TBC1D20, PNPLA6, VCP, BRAF, SLC35A3, SNAP25, PGAP2, TXN2, SLC12A1, TUFM, CAV3, BANF1, RET, GLB1, AGL, SMAD4, HSD17B10, TNPO3, NECAP1, DYSF, XYLT2, BCS1L, LDHA, SLC22A5, SGCA, PEX19, LMX1B, LYST, KLC2, SLC4A1, DLG3, CASR, CNTN1, DMD, PQBP1, AARS2, SLC9A6, PPP2R1A, GRIN2B, CHRNA1, TRIM2, TNFRSF1A, FLNA, FZD6, SMC1A, CYBA, TUBB3, PLEC, TPI1, VDR, C19orf12, FHL1, LRPPRC, STAMBP, NPHS1, ATP1A3, VRK1, DCTN1, PRICKLE2, FMR1, POMT2, NCF1, BSND, CTNS, DPM2, PIGN, HK1, CNNM2, PTEN, TRPV4, POMK, SPINK5, SHANK3, DST, ERLIN2, GJB1, SUMF1, REEP1, LCK, SSR4, MYO1E, KIF21A, SLC6A5, CHRNE, CYBB, HDAC8, HNRNPK, SLC12A6, SEPN1, DPM1, CASQ1, MYH3, ABCG5, PIK3R2, PTPN11, MFSD2A, PEX16, FMN2, TGFB1, IER3IP1, FXYD2, MT-CO2, CACNA1C, INSR, NOTCH1, ENPP1, ABCG8, LMNA, TRPM6, NDUFB9, DNMT1, ALDOA, UBE2A, B4GALT1, ZMPSTE24, L1CAM, INS, PCNA, ATP5A1, STIM1, GRM1, GALNT14, KIF1BP, F10, PFKM, DCC, SYNE1, MPDU1, PRKACA, SIGMAR1, TCAP, MYH11, ANK3, HSPG2, EXT2, DDX58, SLC12A3, TMEM199, MTRR, TRDN, REEP2, CASK, PIK3R1

SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, MULTIPLE ENDOCRINE NEOPLASIA IIB, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, 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, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, EPISODIC ATAXIA/MYOKYMIA SYNDROME, LOEYS-DIETZ SYNDROME 5, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, PITUITARY ADENOMA, ACTH-SECRETING, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, EMBERGER SYNDROME, 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, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OCULOECTODERMAL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, MIRROR MOVEMENTS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, DUCHENNE MUSCULAR DYSTROPHY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, EPISODIC ATAXIA, TYPE 6, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, BECKER MUSCULAR DYSTROPHY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NAIL-PATELLA SYNDROME, GLYCOGEN STORAGE DISEASE XI, 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, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, MYHRE SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ?MYASTHENIC SYNDROME, CONGENITAL, 17, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?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, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, NONAKA MYOPATHY

ACTA1, NCF1, PLEC, EEF1A2, CAV1, CTNNB1, CDK5, APOA1, DNM1, SMAD4, BTK, CAV3, LDHA, UBE2A, SQSTM1, TXN2, TGFB1, GRM1, NOTCH1, LMX1B, RAPSN, KLC2, TGFB3, DLG3, CASR, AGT, PEX19, PMM2, KIF5A, INSR, PEX5, CASK, CACNA1C, KCNA1, KCNJ11, SCN8A, UBA1, GRIN2B, CYBA, TUBB3, CYBB, MYO18B, DMPK, DNMT1, GJA1, SLC1A4, C10orf2, RAD51, UCHL1, AGRN, AR, L1CAM, GNAS, MPC1, DNM1L, CBL, DNM2, GATA2, RET, CHAT, ABCC8, WNK1, PURA, SOD1, DAG1, KRAS, RYR1, GNE, MUSK, SLC1A3, TRPV4, PCNA, PPP2R1A, RPS6KA3, BRAF, WAS, VRK1, FLNA, GNAI2, INS, SNAP25, NDUFS7, KIF1A, DMD, LRP4

SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, NEPHROTIC SYNDROME, TYPE 9, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OPTIC ATROPHY PLUS SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, MYOTUBULAR MYOPATHY, X-LINKED, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (PROGRESSIVE POLYNEUROPATHY TYPE), MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), COENZYME Q10 DEFICIENCY, PRIMARY, 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), COWCHOCK SYNDROME, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, ?SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE, LEBER OPTIC ATROPHY AND DYSTONIA, VLCAD DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, X-LINKED 102, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, SPINOCEREBELLAR ATAXIA 36, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, LEBER OPTIC ATROPHY, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, STIFF SKIN SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ?NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, NESTOR-GUILLERMO PROGERIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, TROYER SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLYCEROL KINASE DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, TANGIER DISEASE, ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYASTHENIC SYNDROME, CONGENITAL, 16, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, BARTH SYNDROME, MENTAL RETARDATION, X-LINKED 19, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, SENGERS SYNDROME, MYOPATHY DUE TO CPT II DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, INFANTILE CEREBELLAR-RETINAL DEGENERATION, COENZYME Q10 DEFICIENCY, PRIMARY, 3, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, MYHRE SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, MENTAL RETARDATION, X-LINKED 90, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, MARFAN LIPODYSTROPHY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3, HYPOMYELINATION, GLOBAL CEREBRAL, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CPT II DEFICIENCY, LETHAL NEONATAL, CHEDIAK-HIGASHI SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

AGK, SMN2, CDK5, COQ9, DNAJC19, CPT2, ACADS, NDUFA11, CUL3, COQ7, NDUFA1, AGT, PPARG, COX6A1, ASCC1, GJA1, TK2, SLC25A22, HADH, COX6B1, NDUFB11, MT-ATP6, DNM2, NOP56, MT-CO3, COX20, ADCK4, WNK1, AFG3L2, ARHGDIA, HADHA, COX8A, COQ2, SMAD4, GATM, MT-ND2, CTNNB1, AIFM1, DNM1, NDUFAF3, NDUFAF6, COQ4, AR, LYST, SFXN4, NOS3, FGFR1, MT-ND6, ABCA1, SUCLG1, SPG20, GK, NDUFAF4, GNAI2, SLC25A46, MPC1, DNM1L, SUCLA2, RAD51, MT-ND3, TNFRSF1A, TMEM173, MT-CYB, UQCRQ, NDUFA9, SLC7A7, MT-ND5, COX14, RPS6KA3, NDUFA10, INS, MICU1, MT-CO1, BANF1, DDX3X, NDUFB3, NDUFS3, SCO2, NDUFA12, BCS1L, SDHD, SLC25A19, CYP27B1, KLC2, FLNA, TAZ, NDUFS7, TMEM70, NDUFA2, FLVCR1, SLC25A26, ALDH18A1, HSD17B10, POLG, ATP5A1, SLC25A4, MT-ND1, COX15, COASY, MCCC1, HK1, PEX5, ECHS1, DDOST, COX10, TTC19, REEP1, NDUFV1, SSR4, DLG3, UQCC2, PDSS2, NDUFS1, SLC25A20, MT-ND4, SDHA, CYP24A1, CASK, MT-CO2, SCO1, NDUFS4, NDUFV2, SLC25A1, NDUFB9, HERC2, SLC25A32, CPT1A, NDUFS8, OPA1, FBN1, UCHL1, PEX19, MT-ND4L, PMPCA, ACADVL, ACO2, NDUFS6, SLC25A12, C19orf12, NDUFS2, C10orf2, TUFM, HADHB, PIK3R1

LYSYL HYDROXYLASE 3 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INFANTILE MYOFIBROMATOSIS 1, FACTOR X DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CREATINE PHOSPHOKINASE, ELEVATED SERUM, KOSAKI OVERGROWTH SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, IA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MYOSCLEROSIS, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, OSTEOGENESIS IMPERFECTA, TYPE XVII, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MYOTUBULAR MYOPATHY, X-LINKED, BETHLEM MYOPATHY 1, MYASTHENIC SYNDROME, CONGENITAL, 5, MYASTHENIC SYNDROME, CONGENITAL, 19, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MARINESCO-SJOGREN SYNDROME, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, GLYCOGEN STORAGE DISEASE XII, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MYOPATHY, DISTAL, TATEYAMA TYPE, FACTOR VII DEFICIENCY, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

CAV3, F7, CAV1, PPARG, GJA1, APOA1, CBL, HSD17B10, PTEN, COL5A1, COL5A2, COL6A2, FLT4, TGFB1, COL1A2, TRDN, GMPPB, PDGFRB, MAG, AGT, TXN2, PLOD3, INSR, NOS3, COLQ, COL3A1, COL9A3, DNMT1, ALDOA, COL6A1, SPARC, INS, COL4A1, PDGFRA, DNM2, F2, PTPN11, FKBP14, SSR4, COL6A3, SIL1, COL13A1, MUSK, MYH11, HSPG2, NOTCH1, F10, SUMF1, CASQ1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, CAMURATI-ENGELMANN DISEASE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PITUITARY ADENOMA, ACTH-SECRETING, TIMOTHY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, NEPHROTIC SYNDROME, TYPE 6, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, SHORT SYNDROME, PERIODIC FEVER, FAMILIAL, CAPOS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, ID, LYMPHEDEMA, HEREDITARY, IA, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PHELAN-MCDERMID SYNDROME, MYHRE SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, NEUROPATHY, HEREDITARY SENSORY, TYPE ID, FRAGILE X TREMOR/ATAXIA SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, BANNAYAN-RILEY-RUVALCABA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPISODIC ATAXIA, TYPE 6, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MIRROR MOVEMENTS 1, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MYOPATHY, DISTAL, TATEYAMA TYPE, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

EEF1A2, CAV3, DNM2, NEFH, CHRNE, MYH14, HTR1A, IGHMBP2, SMAD4, CDK5, AR, FLT4, TGFB1, CHAT, NOS3, VEGFC, ANK3, FLNA, SLC1A3, GRIN2B, SACS, FGFR1, MT-CO2, CACNA1C, SQSTM1, TRIM2, NOTCH1, GRM1, CTNNB1, CBL, UCHL1, FMR1, SCN11A, ATP1A3, L1CAM, PCNA, PTPRO, NEFL, ATL1, RET, PEX19, PTEN, TNFRSF1A, DCC, GJA1, PEX5, PRPH, BIN1, SHANK3, DST, GNAI2, INS, SNAP25, RYR1, PIK3R1

PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14, BARTTER SYNDROME, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA IIB, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 19, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, MENTAL RETARDATION, X-LINKED, SYNDROMIC 14, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, BOUCHER-NEUHAUSER SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), HELSMOORTEL-VAN DER AA SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, PEROXISOME BIOGENESIS DISORDER 14B, IMMUNODEFICIENCY 44, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MYOPATHY, MYOFIBRILLAR, 5, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, KEPPEN-LUBINSKY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, JOUBERT SYNDROME 24, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WELANDER DISTAL MYOPATHY, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, 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, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, HYPOKALEMIC PERIODIC PARALYSIS 1, MYOPATHY, MYOFIBRILLAR, 4, BARTTER SYNDROME, TYPE 4B, DIGENIC, CORNELIA DE LANGE SYNDROME 5, ?AL-GAZALI-BAKALINOVA SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ADAMS-OLIVER SYNDROME 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MYASTHENIC SYNDROME, CONGENITAL, 16, TYROSINEMIA, TYPE I, NAIL-PATELLA SYNDROME, VAN MALDERGEM SYNDROME 2, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, HYPERALDOSTERONISM, FAMILIAL, TYPE III, ?MICROHYDRANENCEPHALY, CPT DEFICIENCY, HEPATIC, TYPE IA, LATERAL MENINGOCELE SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, MYOPATHY WITH EXTRAPYRAMIDAL SIGNS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, {LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, MENTAL RETARDATION, X-LINKED 98, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, CHEDIAK-HIGASHI SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, COCKAYNE SYNDROME, TYPE A, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MEDNIK SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, 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, MACHADO-JOSEPH DISEASE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), NEMALINE MYOPATHY 5, AMISH TYPE, FUMARASE DEFICIENCY, STORMORKEN SYNDROME, 3MC SYNDROME 2, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, PIERSON SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 12/35, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, WRINKLY SKIN SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACETYL-COA CARBOXYLASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, MYOPATHY, MYOFIBRILLAR, 1, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), TROYER SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION, ?INFANTILE LIVER FAILURE SYNDROME 1, OPTIC ATROPHY PLUS SYNDROME, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 9, MUSCULAR DYSTROPHY, CONGENITAL, LAMB-SHAFFER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, NEPHROTIC SYNDROME, TYPE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, DUCHENNE MUSCULAR DYSTROPHY, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, NEPHROTIC SYNDROME, TYPE 2, THROMBOCYTOPENIA-ABSENT RADIUS 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, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, HYPERCALCEMIA, INFANTILE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, GLYCOGEN STORAGE DISEASE VII, SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE, ?IMMUNODEFICIENCY 22, EHLERS-DANLOS SYNDROME, TYPE VI, 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, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PONTOCEREBELLAR HYPOPLASIA TYPE 2B, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ESCOBAR SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 9, LYMPHEDEMA, HEREDITARY, ID, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, GABA-TRANSAMINASE DEFICIENCY, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, AU-KLINE SYNDROME, MYOTONIA CONGENITA, DOMINANT, WARBURG MICRO SYNDROME 3, GLYCOGEN STORAGE DISEASE IV, SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, COCKAYNE SYNDROME, TYPE B, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, 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, PORETTI-BOLTSHAUSER SYNDROME, EPISODIC ATAXIA/MYOKYMIA SYNDROME, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MYOPATHY, DISTAL, TATEYAMA TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, CAPOS SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, PHELAN-MCDERMID SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, CENTRONUCLEAR MYOPATHY 5, SHORT SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, LEBER OPTIC ATROPHY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, STIFF SKIN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 72, AUTOSOMAL DOMINANT, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), AMYOTROPHIC LATERAL SCLEROSIS 8, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KOSAKI OVERGROWTH SYNDROME, OCULOECTODERMAL SYNDROME, AICARDI-GOUTIERES SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, GLYCOGEN STORAGE DISEASE IXC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, ANGIOEDEMA, HEREDITARY, TYPES I AND II, LEUKODYSTROPHY, HYPOMYELINATING, 12, MYOTONIC DYSTROPHY 2, OSSEOUS HETEROPLASIA, PROGRESSIVE, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE, AMYOTROPHIC LATERAL SCLEROSIS 17, ?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, MYOPATHY, DISTAL, 4, SINGLETON-MERTEN SYNDROME 2, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MCARDLE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MYOPATHY, MYOFIBRILLAR, 2, BARTTER SYNDROME, TYPE 3, PEROXISOME BIOGENESIS DISORDER 6B, 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, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ?MYASTHENIC SYNDROME, CONGENITAL, 17, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 3, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, NEMALINE MYOPATHY 9, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, RITSCHER-SCHINZEL SYNDROME 2, MULTIPLE SULFATASE DEFICIENCY, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, GALLOWAY-MOWAT SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, TRANSALDOLASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MYOPATHY, TUBULAR AGGREGATE, 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, MENTAL RETARDATION, X-LINKED 99, 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, LEBER OPTIC ATROPHY AND DYSTONIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, 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, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPINOCEREBELLAR ATAXIA 36, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, 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, KOOLEN-DE VRIES SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, IVIC SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HYPOMAGNESEMIA 2, RENAL, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, 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, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OLIVER-MCFARLANE SYNDROME, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ?MYOSCLEROSIS, CONGENITAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, LYMPHEDEMA, HEREDITARY, IC, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, IMMUNODEFICIENCY 10, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, ?MYOFIBROMATOSIS, INFANTILE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CRANIOECTODERMAL DYSPLASIA 2, ?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, COLD-INDUCED SWEATING SYNDROME 1, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, ?GLYCOGEN STORAGE DISEASE XIII, ?SPASTIC PARAPLEGIA 63, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SHPRINTZEN-GOLDBERG SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, 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, ATAXIA-OCULOMOTOR APRAXIA 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEPHROTIC SYNDROME, TYPE 6, BRODY MYOPATHY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

CHMP2B, FGFR1, ALS2, VARS2, SLC34A1, CUL3, COL3A1, KRIT1, SPARC, VMA21, UBA1, KIF7, ITGA3, MCCC1, FH, TRIM32, WNK1, MYO18B, MAFB, PTEN, PHKB, SCN4A, TRPV4, APOA1, MEGF10, KIF21A, ENO3, GNAS, CHAMP1, THRA, C2, DAG1, MICU1, ABAT, TSEN2, LAMA1, STAT2, MRE11A, AIFM1, CBL, KCNJ1, TALDO1, TNNT1, AP1S2, VEGFC, MT-CYB, ABCD4, NDUFA1, FBXL4, PNPLA6, KMT2A, NDUFA10, MT-CO1, CAV3, BANF1, CCDC22, ALDOA, AGL, CTNNB1, NDUFS3, NDUFA12, BCS1L, PIGY, TAF1, GYS1, IARS2, CTDP1, CTSD, PQBP1, COLQ, PPP2R1A, PNKP, FZD6, TPI1, DNAH14, LRPPRC, STAMBP, DIAPH1, NPHS1, KIF11, PTPRO, PEX13, PEX5, XRCC4, KIAA2022, GJC2, CUL4B, DPM1, HINT1, HNRNPK, CD59, LAMA2, PIK3R2, COL5A2, PEX12, FMN2, RARS, VPS11, D2HGDH, SOD1, PTPN11, NDUFS4, LIPE, FKRP, NLRP5, ERCC6, GRIN2B, CTCF, SNAP25, ATXN3, TCAP, DMPK, SURF1, CCBE1, FSHB, DNM2, CYBA, LRP4, LARS, NAA10, MT-CO2, KIF1C, PGK1, MOCS2, COL1A2, KLHL3, DNM1, AP4B1, COX6A1, ASCC1, ECHS1, ACY1, UBE2A, MYH7, COL6A1, KCNA1, SLC25A1, AR, NDUFB11, DES, MT-CO3, PRF1, KCNT1, ARHGDIA, USP8, CAPN3, ABHD12, GNAI2, KIF1A, VAPB, SCN11A, SGCD, CLCNKA, NDUFAF1, SGCA, NOTCH1, ATP2A1, SACS, GPI, MEF2C, UBR1, CFL2, SGCG, EXOSC8, KIF5C, WWOX, EARS2, MYOM1, NRAS, HARS, ATP6V1B2, AP4E1, NLRC4, RAB18, CLCNKB, UPF3B, BRAF, KAT6A, DMD, NCF1, STIM1, NDUFB3, VRK1, MT-ATP6, TTC19, DNAJB6, FLT4, F12, SNIP1, KLC2, GMPPB, PEX11B, KCNJ5, SMC1A, PLEC, KANSL1, FKBP14, FOXP1, PEX3, SOX18, EMC1, RNASEH2C, BSND, MYH2, FARS2, KCNH1, DYNC1H1, MT-ND3, SCYL1, NDUFV1, VDR, COG4, COL6A2, DLG3, CHRNE, CYBB, AIMP1, MYBPC1, SDHA, TGFB1, PIP5K1C, VCP, SPEG, CACNA1C, HADHA, CLUAP1, COL6A3, NDUFB9, DNMT1, PEX10, PUS1, COLEC11, PCNA, NEFL, CHRNB1, DHFR, PMPCA, ALDH18A1, HSPG2, NLRP3, SKI, C10orf2, SYNE2, LMNA, F2, SYNE1, MYH14, MED13L, GATAD2B, TCTN2, PEX6, AP2S1, MAG, AGT, VPS53, KCNJ6, CDK5, PPP1R3A, LMNB2, WDR35, ERCC8, SMN2, PIGC, FMR1, SALL4, LAMB2, NOP56, PIK3CA, HNRNPA1, GFPT1, SERPING1, CNBP, TBK1, GRID2, PRKAG2, MUSK, NUBPL, ACTA1, NECAP1, ACVR1, GBE1, GCLC, PSMB8, PGM1, NOS3, TIA1, GATA2, KIF5A, SQSTM1, ABCA1, PLOD1, PLOD3, ORAI1, ERLIN2, APTX, CRLF1, LRSAM1, MPC1, DNM1L, SUCLA2, EEF1A2, NDUFS2, ERCC5, CLCN1, GTPBP3, TMEM173, UQCRQ, NDUFA9, AAAS, RPS6KA3, WAS, INS, MOCS1, PFKM, DDX3X, HSD17B10, VPS37A, SDHD, LMX1B, KDM5C, NEFH, CNTN1, GNA11, COL4A1, RAPSN, TNFRSF1A, TUBB3, PSAP, ACACA, FBN1, MT-ND1, DCTN1, DNA2, POLD1, DPM2, ACADSB, NONO, F13A1, PIK3R5, DST, CHRND, FAH, SSR4, THOC2, HDAC8, MT-ND4, FAT4, PHKG2, PTRF, MED25, ANK3, FXYD2, POMT1, TCF4, MYO1E, RBCK1, SLC1A4, SUCLG1, ABCC9, CACNA1S, GRM1, MT-ND4L, ABCC8, F10, POLG, NDUFS6, ADNP, TUFM, REEP2, NDUFS8, CAV1, DNAJC19, PRPH, CHRNG, PABPN1, NDUFA11, PIGT, SOX5, RNASEH1, PPARG, COL5A1, OAT, HIBCH, BTK, COL9A3, SGCB, NEU1, SCN8A, COL13A1, PDGFRB, SMAD4, EMD, POU1F1, MT-ND2, ATP6V0A2, RRM2B, KRAS, RBM8A, LYST, LPIN1, TPM3, NPHS2, TARDBP, ARFGEF2, CPT1A, SPG20, DOCK6, AGRN, CRYAB, NCF2, RAD51, AP1S1, NDUFA2, CLPB, NOTCH3, OPA1, KLHL41, CYP24A1, NDUFS7, QARS, TTR, RET, KCNJ11, NARS2, GJA1, DYSF, MYH3, USP9X, LDHA, PURA, MECP2, TRDN, CASR, GCK, CHRNA1, PYGM, TRIM2, NDE1, TUBB2A, HADHB, NDUFS1, DDX58, ACO2, ATP1A3, SLC25A4, AMPD2, LDB3, SHANK3, DDOST, PNPT1, GJB1, SUMF1, LCK, GLE1, FLNA, BIN1, FHL1, HSD17B4, PMP22, CASK, NEB, PRKACA, INSR, KIAA0196, SCN9A, NDUFV2, ZNF592, PACS1, MARS, MYH8, L1CAM, MT-ND5, ATP5A1, FLNC, PEX19, HACE1, EXOSC3, ITGA7, MYH11, PEX2, MTRR, RYR1, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, AMYOTROPHIC LATERAL SCLEROSIS 8, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAMURATI-ENGELMANN DISEASE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, KOSAKI OVERGROWTH SYNDROME, LEPRECHAUNISM, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, FAMILIAL, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, INFANTILE MYOFIBROMATOSIS 1, SHORT SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, ESCOBAR SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, PREMATURE AGING SYNDROME, PENTTINEN TYPE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LATERAL MENINGOCELE SYNDROME, LYMPHEDEMA, HEREDITARY, ID, LYMPHEDEMA, HEREDITARY, IA, ?MYOFIBROMATOSIS, INFANTILE 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, MENTAL RETARDATION, X-LINKED 102, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, FRAGILE X TREMOR/ATAXIA SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, PITUITARY ADENOMA, ACTH-SECRETING, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MENTAL RETARDATION, X-LINKED 90, OSSEOUS HETEROPLASIA, PROGRESSIVE, STIFF SKIN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, BECKER MUSCULAR DYSTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MARFAN LIPODYSTROPHY SYNDROME, BRODY MYOPATHY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, CPT DEFICIENCY, HEPATIC, TYPE IA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

GRM1, DNMT1, VAPB, GRIN2B, CAV1, SQSTM1, TRPV4, CTNNB1, CHRNG, NOTCH1, AR, FLT4, TGFB1, PIK3R2, NOS3, GRID2, ATP2A1, DLG3, CASR, CNTN1, DMD, GPI, CHRNA1, CDK5, CACNA1C, CHRNE, INSR, PTPN11, FLNA, ARFGEF2, LCK, TUBB3, AGRN, ABHD12, VDR, CBL, FGFR1, F2, CHRND, FMR1, ITGA3, THRA, FBN1, L1CAM, GNAS, RET, VEGFC, CHRNB1, PTEN, TNFRSF1A, COL1A2, DDX3X, ITGA7, NOTCH3, HNRNPA1, MUSK, MYH11, CPT1A, AGT, ACVR1, BTK, GNAI2, SNAP25, PDGFRB, PIK3R1

CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, CREATINE PHOSPHOKINASE, ELEVATED SERUM, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, CEROID LIPOFUSCINOSIS, NEURONAL, 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DUCHENNE MUSCULAR DYSTROPHY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MIYOSHI MUSCULAR DYSTROPHY 1, BECKER MUSCULAR DYSTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, MYOPATHY, DISTAL, TATEYAMA TYPE, BRODY MYOPATHY, LEGIUS SYNDROME, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

KIF5C, CLN3, ATP2A1, CAV3, F2, PIK3R1, DMD, FHL1, CBL, DYSF, MYH3, CAV1, LIPE, TNFRSF1A, INS, PTRF, TGFB1, SPRED1, NOS3, INSR

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LEBER OPTIC ATROPHY AND DYSTONIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, LEBER OPTIC ATROPHY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY

NDUFS3, MT-ND4, NDUFB3, NDUFA12, NDUFAF1, NDUFA11, NDUFA1, NDUFS7, NDUFS4, NDUFV2, NDUFB9, NDUFS1, MT-ND2, NDUFS6, MT-ND5, NDUFS8, MT-ND4L, NDUFA2, NDUFA9, MT-ND1, NDUFB11, NDUFS2, NDUFA10, MT-ND3, NDUFV1

PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ADENYLOSUCCINASE DEFICIENCY, 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, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, LYMPHEDEMA, HEREDITARY, IA, ANGIOEDEMA, HEREDITARY, TYPES I AND II, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ANGIOEDEMA, HEREDITARY, TYPE III, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MYASTHENIC SYNDROME, CONGENITAL, 19, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, WELANDER DISTAL MYOPATHY, COENZYME Q10 DEFICIENCY, PRIMARY, 7, PREMATURE AGING SYNDROME, PENTTINEN TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEMALINE MYOPATHY 5, AMISH TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), GLYCOGEN STORAGE DISEASE XII, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MANDIBULOACRAL DYSPLASIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, OSTEOGENESIS IMPERFECTA, TYPE XVII, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, ?IMMUNODEFICIENCY 22, 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, CORPUS CALLOSUM, PARTIAL AGENESIS OF, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, VLCAD DEFICIENCY, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, COENZYME Q10 DEFICIENCY, PRIMARY, 2, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, TRANSCOBALAMIN II DEFICIENCY, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, FRONTOMETAPHYSEAL DYSPLASIA, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, COWCHOCK SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 5, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, ?INFANTILE LIVER FAILURE SYNDROME 1, 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, FUMARASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?MYOSCLEROSIS, CONGENITAL, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), CLOVE SYNDROME, SOMATIC, BETHLEM MYOPATHY 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PEROXISOME BIOGENESIS DISORDER 11B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MARINESCO-SJOGREN SYNDROME, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MALOUF SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, WIEDEMANN-STEINER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 17, MYOTUBULAR MYOPATHY, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MALONYL-COA DECARBOXYLASE DEFICIENCY, INFANTILE MYOFIBROMATOSIS 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, GABA-TRANSAMINASE DEFICIENCY, MYOPATHY, DISTAL, 4, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PERIODIC FEVER, FAMILIAL, COENZYME Q10 DEFICIENCY, PRIMARY, 3, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LEUKODYSTROPHY, HYPOMYELINATING, 9, MYOPATHY, MYOFIBRILLAR, 2, LYMPHEDEMA, HEREDITARY, ID, GM2-GANGLIOSIDOSIS, AB VARIANT, LOEYS-DIETZ SYNDROME 5, D-2-HYDROXYGLUTARIC ACIDURIA, MYHRE SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, TRYPSINOGEN DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, INFANTILE CEREBELLAR-RETINAL DEGENERATION, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), FACTOR XIIIA DEFICIENCY, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, 2-METHYLBUTYRYLGLYCINURIA, 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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, LEUKODYSTROPHY, HYPOMYELINATING, 3, ?MYOPATHY, SCAPULOHUMEROPERONEAL, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AU-KLINE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4