MUSCLE AND SOFT TISSUES

SHORT SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CPT II DEFICIENCY, LETHAL NEONATAL, VLCAD DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, MYOPATHY DUE TO CPT II DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 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, CPT DEFICIENCY, HEPATIC, TYPE IA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4

TUFM, ACADSB, HADH, PEX5, ECHS1, ACADVL, PEX19, CPT2, ACADS, CTNNB1, CTSD, HADHA, CPT1A, PIK3R1, HADHB

EMBERGER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, PITUITARY ADENOMA, ACTH-SECRETING, CAMURATI-ENGELMANN DISEASE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, TIMOTHY SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, KOSAKI OVERGROWTH SYNDROME, RIPPLING MUSCLE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, SHORT SYNDROME, MIRROR MOVEMENTS 1, MYOPATHY, TUBULAR AGGREGATE, 1, GLYCOGEN STORAGE DISEASE IXC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DUCHENNE MUSCULAR DYSTROPHY, MUSCLE GLYCOGENOSIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, NON-IMMUNE HYDROPS FETALIS, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, LYMPHOPROLIFERATIVE SYNDROME 2, HYPOKALEMIC PERIODIC PARALYSIS 1, IMMUNODEFICIENCY 10, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, 1, PSEUDOHYPOALDOSTERONISM, TYPE 2, BECKER MUSCULAR DYSTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEPHROTIC SYNDROME, TYPE 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, STORMORKEN SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), MYOPATHY, TUBULAR AGGREGATE, 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, MYOPATHY, DISTAL, TATEYAMA TYPE, BRODY MYOPATHY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, TANGIER DISEASE, IMMUNODEFICIENCY 9, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

LCK, CAV3, STIM1, GRIN2B, F2, GNA11, CTNNB1, APOA1, PHKB, ATP2B3, MEF2C, AR, PLCE1, TGFB1, CUL3, NOS3, ATP2A1, CASR, AGT, PHKG2, RYR1, PPARG, CDK5, CACNA1C, TUBB3, VDR, CBL, ORAI1, BRAF, CD27, PDGFRA, CACNA1S, GNAS, EEF1A2, GATA2, DES, GRM1, PHKA1, DCC, SLC25A4, PRKACA, PDGFRB, NEB, GNAI2, INS, DMD, PIK3R1

MYOPATHY, MYOFIBRILLAR, 2, CAMURATI-ENGELMANN DISEASE, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, 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, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PORETTI-BOLTSHAUSER SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, AGAMMAGLOBULINEMIA, X-LINKED 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, OGDEN SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, PIERSON SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, PITUITARY DEPENDENT HYPERCORTISOLISM, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, COWCHOCK SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, IVIC SYNDROME, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, NON-IMMUNE HYDROPS FETALIS, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, WELANDER DISTAL MYOPATHY, TIMOTHY SYNDROME, KOSAKI OVERGROWTH SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, ARTHROGRYPOSIS, DISTAL, TYPE 2A, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MYOSCLEROSIS, CONGENITAL, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LIANG DISTAL MYOPATHY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 12, MYOTONIC DYSTROPHY 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MYOPATHY, MYOFIBRILLAR, 4, BECKER MUSCULAR DYSTROPHY, ?MYOFIBROMATOSIS, INFANTILE 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, WIEDEMANN-STEINER SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INFANTILE MYOFIBROMATOSIS 1, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, PEROXISOME BIOGENESIS DISORDER 11B, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MYOPATHY, DISTAL, 4, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 9, LATERAL MENINGOCELE SYNDROME, LYMPHEDEMA, HEREDITARY, ID, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MARFAN LIPODYSTROPHY SYNDROME, FACTOR XIIIA DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ATAXIA-OCULOMOTOR APRAXIA 3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, NEPHROTIC SYNDROME, TYPE 6, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

FSHB, DNM2, CAV1, FGFR1, KMT2A, CAV3, PRPH, VPS11, GNAS, COL3A1, F2, AGT, LDB3, COL5A1, MYH14, BTK, MYH7, COL6A3, ITGA3, LAMB2, TRIM32, PIK3CA, NOTCH1, EMD, TNXB, MYH3, ARHGDIA, GNAI2, CTNNB1, PDGFRB, ACTA1, LIMS2, TAF1, F13A1, KRAS, HTR1A, AR, SQSTM1, NOS3, TIA1, GATA2, LAMA1, MEF2C, COL1A2, AIFM1, CBL, PLOD3, CRYAB, MYOM1, SPARC, TALDO1, PDGFRA, NCF2, VEGFC, NOTCH3, PCNA, CLDN16, RPS6KA3, WAS, ADCY5, BRAF, INS, SNAP25, PLIN1, NCF1, RET, KCNJ11, GJA1, DYSF, SMAD4, CDK5, FLT4, GRM1, INSR, RAPSN, FLNA, CASR, DMD, GNA11, COL4A1, PPP2R1A, GRIN2B, NAA10, TUBB3, BIN1, TUBB2A, VDR, DIAPH1, NPHS1, FBN1, PTPRO, PEX13, TRPM7, KAT6A, MYH2, TRPV4, MUSK, PIK3R5, GJB1, PFKM, NRAS, COL6A2, DLG3, FZD6, HNRNPK, PIK3R2, TGFB1, LAMA2, PTPN11, PIP5K1C, CASK, ACVR1, PRKACA, CACNA1C, TCF4, COL5A2, COL6A1, DNMT1, SALL4, LIFR, MYH8, L1CAM, CNBP, FLNC, CTCF, PTEN, ITGA7, DAG1, MYH11, HSPG2, NEB, MTRR, RARS, PIK3R1

LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, LEUKODYSTROPHY, HYPOMYELINATING, 9, ?INFANTILE LIVER FAILURE SYNDROME 1, MYHRE SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, LEUKODYSTROPHY, HYPOMYELINATING, 3, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15

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

MYOTUBULAR MYOPATHY, X-LINKED, HYPOMAGNESEMIA 2, RENAL, INFANTILE MYOFIBROMATOSIS 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ZIMMERMANN-LABAND SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, BARTTER SYNDROME, TYPE 2, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SHORT SYNDROME, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BARTTER SYNDROME, TYPE 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CLOVE SYNDROME, SOMATIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, WRINKLY SKIN SYNDROME, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, NEPHROTIC SYNDROME, TYPE 8, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CAPOS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BARTTER SYNDROME, TYPE 4B, DIGENIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, ATAXIA-OCULOMOTOR APRAXIA 3, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, PITUITARY ADENOMA, ACTH-SECRETING, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19

DNM1, CAV1, KRAS, HSD17B10, AR, PIK3R2, TGFB1, PIK3CA, AP2S1, KCNJ1, ATP6V1B2, AGT, FGFR1, WAS, PRKACA, INSR, WNK1, VDR, CBL, F2, DDX58, KLC2, ATP5A1, GNAS, PCNA, DCTN1, ATP1A3, DNM2, SLC4A1, BSND, ARHGDIA, PDGFRB, CLCNKB, PIK3R5, RPS6KA3, FXYD2, GNAI2, DYNC1H1, ATP6V0A2, SCYL1, INS, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, ACETYL-COA CARBOXYLASE DEFICIENCY, TANGIER DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}

ACACA, ACADSB, HADH, HADHA, HADHB, ECHS1, MCCC1, MT-CO2, HSD17B10, ABCA1, ACADS, ALDH6A1, ABAT, INS, HIBCH, MCCC2, CTSD, NOS3

NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, MULTIPLE SULFATASE DEFICIENCY, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, MANNOSIDOSIS, BETA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, GM2-GANGLIOSIDOSIS, AB VARIANT, CEROID LIPOFUSCINOSIS, NEURONAL, 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, GM1-GANGLIOSIDOSIS, TYPE III, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, WRINKLY SKIN SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, KANZAKI DISEASE, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, DANON DISEASE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, GLYCOGEN STORAGE DISEASE VII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, CEROID LIPOFUSCINOSIS, NEURONAL, 10, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

EEF1A2, GLB1, ASAH1, CLN3, HGSNAT, AP4S1, TAF1, HEXB, PPARG, GUSB, AP4B1, CTSD, GPI, COL4A1, VMA21, PSAP, MANBA, PACS1, GAA, UCHL1, GLA, ATP5A1, AP1S2, PFKM, CTNS, AP1S1, TUFM, AP4E1, NAGA, SCYL1, LAMP2, NEU1, ACVR1, GM2A, INS, ATP6V0A2, SUMF1

INFANTILE MYOFIBROMATOSIS 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, GLYCOGEN STORAGE DISEASE X, KOSAKI OVERGROWTH SYNDROME, OCULOECTODERMAL SYNDROME, SHORT SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, ATAXIA-OCULOMOTOR APRAXIA 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, GLYCOGEN STORAGE DISEASE VII, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

NRAS, FGFR1, RET, KRAS, HK1, PIK3R1, GCK, CDK5, LDHA, PDGFRA, PCNA, PTEN, PIK3R5, PFKM, PGAM2, INS, PIK3CA, PDGFRB, PIK3R2, SCO2

LYSYL HYDROXYLASE 3 DEFICIENCY, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, NON-IMMUNE HYDROPS FETALIS, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NESTOR-GUILLERMO PROGERIA SYNDROME, MANNOSIDOSIS, BETA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SPONDYLOOCULAR SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, KANZAKI DISEASE, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, TANGIER DISEASE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2

BANF1, NEU1, CAV1, FGFR1, KRAS, APOA1, MANBA, SDHD, CD59, DPM1, DPAGT1, B3GAT3, TGFB1, PIGT, HEXB, B4GALT1, GLB1, GUSB, GALNT14, PLOD3, EXT2, POMT1, B4GALNT1, NOTCH1, SLC33A1, PIGC, FGF23, VCP, GLA, GBA2, PIGG, PGAP1, DSE, ALG2, POMGNT1, WWOX, DPM2, POMT2, NAGA, PIGN, NDST1, XYLT2, HSPG2, B4GAT1, DDOST, HGSNAT, CHST14, INS, PIGY

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PIERSON SYNDROME, INFANTILE MYOFIBROMATOSIS 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CREATINE PHOSPHOKINASE, ELEVATED SERUM, KOSAKI OVERGROWTH SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, PREMATURE AGING SYNDROME, PENTTINEN TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, ID, LYMPHEDEMA, HEREDITARY, IA, BANNAYAN-RILEY-RUVALCABA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?MYOSCLEROSIS, CONGENITAL, NEPHROTIC SYNDROME, TYPE 8, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XVII, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MYOPATHY, DISTAL, 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 12, PORETTI-BOLTSHAUSER SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, BETHLEM MYOPATHY 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ATAXIA-OCULOMOTOR APRAXIA 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, GLYCOGEN STORAGE DISEASE VII, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS

CAV3, PFKM, CAV1, TAF1, CTNNB1, DYSF, CDK5, COL5A2, COL6A2, FLNC, FLT4, TGFB1, PIK3CA, COL3A1, FLNA, PIP5K1C, PDGFRB, DAG1, AGT, DMD, LAMA1, MEF2C, GRIN2B, INSR, NOS3, COL6A1, VPS11, BIN1, CBL, F2, COL6A3, MYOM1, ITGA3, PDGFRA, COL4A1, LAMB2, SPARC, TRIM32, VEGFC, COL5A1, PTEN, NOTCH1, LAMA2, COL1A2, GJA1, ITGA7, ARHGDIA, MUSK, MYH11, PIK3R5, HSPG2, NEB, BRAF, INS, MTRR, PIK3R2, DIAPH1, TNXB, PIK3R1

PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 5B, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11B, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), MALONYL-COA DECARBOXYLASE DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PEROXISOME BIOGENESIS DISORDER 6B, CK SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, PEROXISOME BIOGENESIS DISORDER 14B, D-BIFUNCTIONAL PROTEIN DEFICIENCY, 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, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE

PEX1, PEX26, SOD1, HSD17B4, PEX6, PEX12, PEX11B, AGT, HADHB, NSDHL, CTNNB1, PEX3, PEX10, MLYCD, PEX19, PEX16, PEX13, ABCD4, XDH, PEX5, PEX2, DHFR, FAR1

LOEYS-DIETZ SYNDROME 5, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CARDIOMYOPATHY, HYPERTROPHIC 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, RIPPLING MUSCLE DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LIANG DISTAL MYOPATHY, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYOPATHY, MYOFIBRILLAR, 2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, HYPOKALEMIC PERIODIC PARALYSIS 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, 1, HEART-HAND SYNDROME, SLOVENIAN TYPE, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, FACTOR XIIIA DEFICIENCY, TIMOTHY SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MALOUF SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MANDIBULOACRAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, MYOFIBRILLAR, 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

CAV3, FLNA, MYH11, BIN1, LMNA, SGCD, SGCA, TGFB1, LAMA2, NOS3, ATP2A1, TGFB3, DAG1, TPM3, CACNA1C, COL1A2, DST, MYH7, SGCG, ITGA3, TPM2, CRYAB, CACNA1S, SGCB, FLNC, DES, ITGA7, TTN, EMD, F13A1, CAPN3, PRKAG2, DMD

{MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULODENTODIGITAL DYSPLASIA, RIPPLING MUSCLE DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DUCHENNE MUSCULAR DYSTROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, HYPOKALEMIC PERIODIC PARALYSIS 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, 1, HEART-HAND SYNDROME, SLOVENIAN TYPE, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MANDIBULOACRAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MYOPATHY, DISTAL, TATEYAMA TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

SGCG, CACNA1S, ATP2A1, ITGA7, DAG1, SGCA, EMD, GJA1, ITGA3, CTNNB1, SGCD, CACNA1C, LMNA, FLNA, SGCB, GRIN2B, DES, CAV3, LAMA2, BIN1, DMD

LOEYS-DIETZ SYNDROME 5, NON-IMMUNE HYDROPS FETALIS, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, RIPPLING MUSCLE DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LIANG DISTAL MYOPATHY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, PITUITARY ADENOMA, ACTH-SECRETING, HYPOKALEMIC PERIODIC PARALYSIS 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, 1, HEART-HAND SYNDROME, SLOVENIAN TYPE, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, FACTOR XIIIA DEFICIENCY, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MALOUF SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MANDIBULOACRAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MYOPATHY, DISTAL, TATEYAMA TYPE, BRODY MYOPATHY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

CAV3, FLNA, MYH11, BIN1, LMNA, SGCD, SGCA, TGFB1, LAMA2, PTPN11, ATP2A1, TGFB3, DAG1, TPM3, PRKACA, CACNA1C, COL1A2, MYH7, SGCG, ITGA3, TPM2, SGCB, CACNA1S, GNAS, GRIN2B, DES, ITGA7, TTN, EMD, F13A1, CAPN3, NEB, ADCY5, GNAI2, DMD

CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?MYOSCLEROSIS, CONGENITAL, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PORETTI-BOLTSHAUSER SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BETHLEM MYOPATHY 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PIERSON SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL

COL3A1, COL6A2, F2, PPARG, COL4A1, AR, LAMA2, TGFB1, COL1A2, FLNA, DAG1, LAMA1, COL5A1, COL5A2, COL6A1, COL6A3, AGRN, ITGA3, LAMB2, GRIN2B, ITGA7, TNXB, HSPG2, SNAP25, PIK3R1

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ?INFANTILE LIVER FAILURE SYNDROME 1, GLYCOGEN STORAGE DISEASE X, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ARTS SYNDROME, ?GLYCOGEN STORAGE DISEASE XIII, MIRROR MOVEMENTS 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYHRE SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, TRANSALDOLASE DEFICIENCY, AMINOACYLASE 1 DEFICIENCY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, LEBER OPTIC ATROPHY, INFANTILE CEREBELLAR-RETINAL DEGENERATION, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, GLYCOGEN STORAGE DISEASE XII, NEU-LAXOVA SYNDROME 2, GLYCOGEN STORAGE DISEASE VII, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, LEUKODYSTROPHY, HYPOMYELINATING, 10

LARS, ALDOA, PRPS1, GPT2, ALDH18A1, PGAM2, ENO3, PGK1, MTR, PYCR2, ACY1, GFPT1, TPI1, TALDO1, MT-CYB, PCNA, PFKM, RAD51, PSAT1, ACO2, SMAD4, CAPN3, INS

{MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CAMURATI-ENGELMANN DISEASE, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SHORT SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MACHADO-JOSEPH DISEASE, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, NEMALINE MYOPATHY 5, AMISH TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PITUITARY ADENOMA, ACTH-SECRETING, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LEBER OPTIC ATROPHY AND DYSTONIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, NEPHROTIC SYNDROME, TYPE 8, LEBER OPTIC ATROPHY, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, OSSEOUS HETEROPLASIA, PROGRESSIVE, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TIMOTHY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, HYPOKALEMIC PERIODIC PARALYSIS 1, TANGIER DISEASE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, FRONTOMETAPHYSEAL DYSPLASIA, MENTAL RETARDATION, X-LINKED 19, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MYOTUBULAR MYOPATHY, X-LINKED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GLYCOGEN STORAGE DISEASE XI, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MYHRE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BRODY MYOPATHY, AU-KLINE SYNDROME

SOD1, NDUFS8, F2, PRPH, PRKACA, NDUFA11, GNAS, COL3A1, AP2S1, NDUFA1, AGT, PPARG, CDK5, UBA1, ERCC8, CTNNB1, COX6B1, NDUFB11, DNM2, MT-CO3, WNK1, EMD, COX8A, HSD17B10, ARHGDIA, GNAI2, PEX5, SDHD, AR, NOS3, NDUFS6, ATP2A1, RYR1, MT-ND6, ABCA1, MAFB, MT-ND2, TNNT1, EEF1A2, TAF1, TNFRSF1A, MT-CYB, UQCRQ, NDUFA9, PCNA, RPS6KA3, WAS, ADCY5, NDUFA10, INS, MT-CO1, BANF1, PFKM, NDUFB3, MT-ATP6, NDUFA12, SMAD4, LDHA, ALS2, FLNA, CASR, CTDP1, NDUFS7, BCS1L, GRIN2B, NDUFA2, TUBB3, AIP, NDUFS1, DNAH14, DDX58, NEFL, SLC25A4, MT-ND1, DCTN1, KIF11, PTEN, DDOST, MT-ND3, COX6A1, SCYL1, NDUFV1, NDUFS3, HSD17B4, DLG3, HNRNPK, CD59, MT-ND4, SDHA, TGFB1, VCP, MT-CO2, CACNA1C, NOTCH1, NDUFS4, NDUFV2, LIPE, NDUFB9, CACNA1S, MT-ND5, ATP5A1, UCHL1, MT-ND4L, ACO2, ATXN3, NDUFS2, NEFH, TUFM, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, EMBERGER SYNDROME, LEBER OPTIC ATROPHY AND DYSTONIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, CAMURATI-ENGELMANN DISEASE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COCKAYNE SYNDROME, TYPE A, TIMOTHY SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?IMMUNODEFICIENCY 22, SHORT SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, COENZYME Q10 DEFICIENCY, PRIMARY, 3, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, BANNAYAN-RILEY-RUVALCABA SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MYHRE SYNDROME, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, IMMUNODEFICIENCY 44, CARDIOMYOPATHY, HYPERTROPHIC 6, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CLOVE SYNDROME, SOMATIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, MYOPATHY, DISTAL, 4, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MYOPATHY, MYOFIBRILLAR, 2, LEBER OPTIC ATROPHY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TANGIER DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, ATAXIA-OCULOMOTOR APRAXIA 3, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WIEDEMANN-STEINER SYNDROME, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, BRODY MYOPATHY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL

ACTA1, ACO2, CAV3, AR, KCNJ11, AGL, KMT2A, NDUFB3, PDSS2, LARS, CDK5, SDHD, SMAD4, BCS1L, LDHA, NDUFA11, SDHA, TGFB1, MT-CO3, PIK3R2, NDUFA10, ATP2A1, F2, NDUFA1, NDUFA12, AGT, PMPCA, NDUFS7, GCK, PPARG, MT-CO2, CACNA1C, INSR, NOS3, NDUFS4, DDOST, NDUFV2, LCK, ABCA1, CTNNB1, NDUFB9, VDR, GJA1, MT-ND2, NDUFS3, CBL, COX6B1, NDUFS8, PRF1, CRYAB, NDUFB11, NDUFS6, PTPN11, GATA2, NDUFS2, PIK3CA, FLNC, ERCC8, NDUFA2, MT-CYB, UQCRQ, NDUFV1, NDUFA9, PRKACA, HK1, PTEN, PCNA, PIK3R5, TNFRSF1A, PRKAG2, STAT2, PIK3R1, MAFB, NOTCH1, INS, ABCC8, MT-ND3, COX6A1, NDUFS1, COX8A, MT-CO1

LOEYS-DIETZ SYNDROME 5, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, NON-IMMUNE HYDROPS FETALIS, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CARDIOMYOPATHY, HYPERTROPHIC 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, LYMPHEDEMA, HEREDITARY, ID, CAMURATI-ENGELMANN DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, OCULODENTODIGITAL DYSPLASIA, ARTHROGRYPOSIS, DISTAL, TYPE 2A, RIPPLING MUSCLE DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, 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, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, MYHRE SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, MYOPATHY, DISTAL, 4, PERIODIC FEVER, FAMILIAL, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYOPATHY, MYOFIBRILLAR, 2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, PITUITARY ADENOMA, ACTH-SECRETING, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, HYPOKALEMIC PERIODIC PARALYSIS 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, 1, HEART-HAND SYNDROME, SLOVENIAN TYPE, BECKER MUSCULAR DYSTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, FACTOR XIIIA DEFICIENCY, TIMOTHY SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, MALOUF SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MANDIBULOACRAL DYSPLASIA, FACTOR X DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MYOPATHY, DISTAL, TATEYAMA TYPE, BRODY MYOPATHY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

NCF1, FLNC, CAV1, MYH11, CTNNB1, CAV3, SGCD, SMAD4, PRF1, SGCA, TGFB1, LAMA2, PTPN11, TPM2, TGFB3, FLNA, DAG1, TPM3, PRKAG2, PRKACA, CACNA1C, PIK3CA, F10, ADCY5, BIN1, MYH7, LMNA, CBL, SGCG, ITGA3, ATP2A1, SGCB, CACNA1S, GNAS, CRYAB, GRIN2B, DES, ITGA7, VEGFC, TNFRSF1A, COL1A2, GJA1, TTN, EMD, PTEN, F13A1, MYH3, CAPN3, NEB, DST, GNAI2, INS, DMD, PIK3R1

PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, MULTIPLE SULFATASE DEFICIENCY, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, MANNOSIDOSIS, BETA, PITUITARY DEPENDENT HYPERCORTISOLISM, SHORT SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, IA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, DANON DISEASE, MIYOSHI MUSCULAR DYSTROPHY 1, 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, AGAMMAGLOBULINEMIA, X-LINKED 1, MENTAL RETARDATION, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MENTAL RETARDATION, X-LINKED SYNDROMIC 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, 3MC SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ?IMMUNODEFICIENCY 22, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, C2 DEFICIENCY, CK SYNDROME, PEROXISOME BIOGENESIS DISORDER 14B, IMMUNODEFICIENCY 44, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, WRINKLY SKIN SYNDROME, GM2-GANGLIOSIDOSIS, AB VARIANT, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, LOEYS-DIETZ SYNDROME 5, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE II, TRIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DUCHENNE MUSCULAR DYSTROPHY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CLOVE SYNDROME, SOMATIC, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LEUKODYSTROPHY, HYPOMYELINATING, 12, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, XANTHINURIA, TYPE I, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, TANGIER DISEASE, BECKER MUSCULAR DYSTROPHY, ?MYOFIBROMATOSIS, INFANTILE 2, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, FRONTOMETAPHYSEAL DYSPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 17, D-BIFUNCTIONAL PROTEIN DEFICIENCY, 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, PEROXISOME BIOGENESIS DISORDER 11B, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, KANZAKI DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 3, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LATERAL MENINGOCELE SYNDROME, LYMPHEDEMA, HEREDITARY, ID, PEROXISOME BIOGENESIS DISORDER 6B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), MYHRE SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, GM1-GANGLIOSIDOSIS, TYPE III, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEPHROTIC SYNDROME, TYPE 6, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

SOD1, DNM2, CAV1, SQSTM1, GPI, CLN3, NCF1, CNBP, VPS11, PGK1, PEX6, AP2S1, F2, GUSB, AGT, PPARG, VPS37A, VMA21, NSDHL, CTNNB1, BTK, MANBA, PNPLA2, MLYCD, PIK3CA, PRF1, PDGFRB, TBK1, ASAH1, GNAI2, ATP6V0A2, MUSK, DNM1, TAF1, PEX26, APOA1, CUL3, GNAS, NOS3, PFKM, NAGA, KIF5A, KCNJ11, HEXB, DDOST, ARFGEF2, CBL, GAA, C2, PEX10, AP1S2, NCF2, TGFB3, HARS, ATP6V1B2, AP1S1, AP4E1, TMEM173, COLEC11, ABCD4, CASR, NOTCH3, XDH, SUMF1, BIN1, AP4B1, STAMBP, INS, SLC35A2, DMD, USP8, CAV3, UCHL1, GLB1, AGL, GJA1, SSR4, DYSF, SMAD4, FLT4, VEGFC, GMPPB, PEX11B, CTSD, COL4A1, PPP2R1A, GRIN2B, TUBB3, KRAS, TUBB2A, PEX16, DDX58, HTR1A, PEX3, ATP5A1, FAR1, DCTN1, CHMP2B, PTPRO, CTNS, PEX13, SIL1, PEX5, LAMP2, NEU1, STAT2, HGSNAT, DYNC1H1, SCYL1, LCK, PEX1, AP4S1, FLNA, PSAP, CYBB, IQSEC2, HSD17B4, PIK3R2, TGFB1, PTPN11, PEX12, PIP5K1C, CASK, ACVR1, PRKACA, INSR, DNMT1, ALDOA, PACS1, CYBA, GLA, PDGFRA, L1CAM, RET, PEX19, TUFM, HACE1, AGPAT2, PEX2, HSPG2, GM2A, DHFR, HADHB, PIK3R1

TRIFUNCTIONAL PROTEIN DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ACETYL-COA CARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

ACACA, MLYCD, HADHB, ECHS1, SUCLA2, HIBCH, ALDH6A1, LDHA, ABAT, TUFM, HADHA, SUCLG1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, CAMURATI-ENGELMANN DISEASE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PERIODIC FEVER, FAMILIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, CLOVE SYNDROME, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, MYOPATHY, DISTAL, 4, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MYOPATHY, MYOFIBRILLAR, 2, LEBER OPTIC ATROPHY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TANGIER DISEASE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, ATAXIA-OCULOMOTOR APRAXIA 3, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?INFANTILE LIVER FAILURE SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

LARS, AR, F2, SDHA, CTNNB1, CDK5, NDUFS3, SDHD, NDUFA12, BCS1L, LDHA, NDUFA11, PIK3R2, TGFB1, MT-CO3, NOS3, NDUFA1, AGT, NDUFS7, PPARG, MT-CO2, INSR, TNFRSF1A, NDUFS4, NDUFV2, ABCA1, NDUFB3, NDUFB9, NDUFS1, NDUFA10, COX6B1, ACO2, CRYAB, NDUFB11, NDUFS6, NDUFS8, NDUFS2, PIK3CA, FLNC, PTPN11, NDUFA2, MT-CYB, UQCRQ, NDUFV1, NDUFA9, PRKACA, PTEN, PCNA, PIK3R5, PRKAG2, DDOST, PIK3R1, MT-ND2, INS, COX6A1, COX8A, MT-CO1

MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), GLYCOGEN STORAGE DISEASE IV, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, MULTIPLE SULFATASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, BARTH SYNDROME, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, MYOTUBULAR MYOPATHY, X-LINKED, FANCONI RENOTUBULAR SYNDROME 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, TRANSALDOLASE DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ZIMMERMANN-LABAND SYNDROME 1, AMINOACYLASE 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, MIYOSHI MUSCULAR DYSTROPHY 1, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MOLYBDENUM COFACTOR DEFICIENCY A, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), AGAMMAGLOBULINEMIA, X-LINKED 1, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, NEU-LAXOVA SYNDROME 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, COLE DISEASE, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ATAXIA-TELANGIECTASIA-LIKE DISORDER, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, LEBER OPTIC ATROPHY AND DYSTONIA, CARDIOMYOPATHY, HYPERTROPHIC 6, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), MEND SYNDROME, VLCAD DEFICIENCY, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, COENZYME Q10 DEFICIENCY, PRIMARY, 7, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, LEUKODYSTROPHY, HYPOMYELINATING, 10, PITUITARY DEPENDENT HYPERCORTISOLISM, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CK SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, IMMUNODEFICIENCY 44, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, ACETYL-COA CARBOXYLASE DEFICIENCY, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, WRINKLY SKIN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, NEPHROTIC SYNDROME, TYPE 8, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MIRROR MOVEMENTS 2, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?HYDROXYKYNURENINURIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PERRAULT SYNDROME 1, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, MEDNIK SYNDROME, ?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, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MALONYL-COA DECARBOXYLASE DEFICIENCY, ARTS SYNDROME, OCULOECTODERMAL SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, GLYCOGEN STORAGE DISEASE II, TRIFUNCTIONAL PROTEIN DEFICIENCY, NEPHROTIC SYNDROME, TYPE 3, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, GLYCOGEN STORAGE DISEASE IA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, NEPHROTIC SYNDROME, TYPE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), D-GLYCERIC ACIDURIA, COENZYME Q10 DEFICIENCY, PRIMARY, 5, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, LIANG DISTAL MYOPATHY, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PEROXISOME BIOGENESIS DISORDER 11B, PERIODIC FEVER, FAMILIAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), BECKER MUSCULAR DYSTROPHY, SENGERS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, CORNELIA DE LANGE SYNDROME 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, GLYCOGEN STORAGE DISEASE VII, MALOUF SYNDROME, WIEDEMANN-STEINER SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, TYROSINEMIA, TYPE I, ?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, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, KOSAKI OVERGROWTH SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, GLYCOGEN STORAGE DISEASE X, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, MYOPATHY DUE TO CPT II DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERCALCEMIA, INFANTILE, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MCARDLE DISEASE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, GABA-TRANSAMINASE DEFICIENCY, ?SPASTIC PARAPLEGIA 63, COENZYME Q10 DEFICIENCY, PRIMARY, 3, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, MARINESCO-SJOGREN SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, 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, 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, CPT II DEFICIENCY, LETHAL NEONATAL, ?GLYCOGEN STORAGE DISEASE XIII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AU-KLINE SYNDROME, NONAKA MYOPATHY

SLC34A1, NEU1, CAV1, PGAP1, FGFR1, SMN2, CDK5, COQ9, LARS, NDUFS2, SDHD, CPT2, VPS53, ACADS, DNM2, PGAM2, NDUFA11, PGK1, MOCS2, MT-CO3, GNAI2, GBA2, ALDOA, F2, GUSB, AGT, PMM2, GCK, PPARG, CTNNB1, COX6A1, PIGT, PEX13, OAT, VMA21, HIBCH, PSAT1, UBA1, NSDHL, BTK, MCCC2, KMT2A, TK2, MYH7, COQ7, FGF23, HADH, NDUFS1, COX6B1, SMAD4, DPM2, FH, PNPLA2, MT-ATP6, AGK, DES, ALG2, NDUFV2, WNK1, PIP5K1C, DYSF, ACY1, QARS, LIAS, ARHGDIA, HADHA, COX8A, COQ2, PRPH, CAPN3, CPT1A, GNE, PRKAG2, ASAH1, GATM, MT-ND2, ATP6V0A2, SBF1, NUBPL, SLC33A1, PHKB, HSD17B4, RRM2B, KRAS, COASY, COQ4, AR, PDSS2, AP1S2, PGM1, NDUFA1, GNAS, NOS3, NDUFS6, EARS2, NDUFA12, LPIN1, RYR1, LDHA, GPI, MT-ND6, CASK, SUMF1, PIK3CA, HEXB, CFL2, ABAT, DDOST, ALAD, ABCA1, SUCLG1, MRE11A, DMPK, AIFM1, GK, ITPA, HGSNAT, MRPL44, AGRN, EBP, SUCLA2, MTM1, TALDO1, G6PC, ERLIN2, PFKM, DSE, GMPPB, HARS, AP1S1, SIL1, FKBP14, MT-CYB, UQCRQ, ATP6V1B2, NDUFA9, XDH, ADK, NDST1, MT-ND5, COX14, PANK2, ENPP1, TUFM, FAH, NDUFA10, INS, MOCS1, NDUFS7, NDUFS3, CTSD, MT-CO1, ACO2, CAV3, BANF1, DPAGT1, GLB1, AGL, NDUFB3, PRPS1, NRAS, SCO2, XYLT2, PYGM, ENO3, TAF1, MECP2, CYP27B1, ADSL, FLNA, TAZ, CTDP1, MT-ND4L, DMD, WWOX, NARS2, B4GALNT1, BCS1L, PPP2R1A, NAA10, GFPT1, PYCR2, TNFRSF1A, SSR4, SMC1A, DMGDH, GBE1, TPI1, HADHB, VDR, EXT2, SMS, DDX58, RAD51, HINT1, HSD17B10, NPHS1, POLG, ATP5A1, MT-ND1, COX15, DNA2, NCF1, POLD1, ERCC8, PIGC, MCCC1, TRPM7, ACADSB, HK1, NONO, ECHS1, KYNU, GCLC, POLG2, CYP2R1, STAT2, GLYCTK, GAA, LYRM4, MT-ND3, SCYL1, NDUFV1, LCK, NDUFA2, DPM1, DLG3, SDHA, PIGN, MTHFR, HDAC8, ACACA, HNRNPK, ALDH6A1, PIGY, GPT2, ACADVL, MT-ND4, GAMT, B3GAT3, TGFB1, PLCE1, PTPN11, RPS6KA3, B4GALT1, NEFL, VCP, MTR, RARS, B4GAT1, MT-CO2, INSR, NOTCH1, NDUFS4, CLPB, TPK1, LMNA, TANGO2, NDUFB9, PDGFRB, DNMT1, SLC25A32, BRAF, AMPD1, UBE2A, NDUFS8, GMPPA, PDGFRA, PCNA, ATP1A3, UCHL1, SLC35A2, PEX19, GALNT14, MLYCD, CYP24A1, PMPCA, GJA1, MTAP, AMPD2, TYMP, CD27, AGPAT2, MYH11, NDUFB11, ALDH18A1, HSPG2, CHKB, SURF1, C10orf2, TMEM199, DHFR, COX10, PEX5, PIK3R1

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, 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, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ATAXIA-TELANGIECTASIA-LIKE DISORDER, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, MEND SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, CK SYNDROME, IMMUNODEFICIENCY 44, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ARTS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, GLYCOGEN STORAGE DISEASE IA, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, XANTHINURIA, TYPE I, SENGERS SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 5, ?SPINOCEREBELLAR ATAXIA 34, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, OGDEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, GABA-TRANSAMINASE DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, KANZAKI DISEASE, COENZYME Q10 DEFICIENCY, PRIMARY, 3, LATERAL MENINGOCELE SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, COLE DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AMINOACYLASE 1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NEU-LAXOVA SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, 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, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, WRINKLY SKIN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, BECKER MUSCULAR DYSTROPHY, IMMUNODEFICIENCY 23, GLYCEROL KINASE DEFICIENCY, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?SPASTIC PARAPLEGIA 63, LEUKODYSTROPHY, HYPOMYELINATING, 9, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ?HYDROXYKYNURENINURIA, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, CPT II DEFICIENCY, LETHAL NEONATAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, AU-KLINE SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 10, GLYCOGEN STORAGE DISEASE IV, SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CARDIOMYOPATHY, HYPERTROPHIC 6, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, CAPOS SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, OSSEOUS HETEROPLASIA, PROGRESSIVE, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, 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, BANNAYAN-RILEY-RUVALCABA SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, TANGIER DISEASE, GLYCOGEN STORAGE DISEASE X, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, ?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, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SINGLETON-MERTEN SYNDROME 2, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MCARDLE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MYHRE SYNDROME, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, PSEUDOHYPOALDOSTERONISM, TYPE 2, NEPHROTIC SYNDROME, TYPE 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MULTIPLE SULFATASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, MANNOSIDOSIS, BETA, SHORT SYNDROME, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, TRANSALDOLASE DEFICIENCY, HYPERCALCEMIA, INFANTILE, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, 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, VLCAD DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 7, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, COENZYME Q10 DEFICIENCY, PRIMARY, 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, FUMARASE DEFICIENCY, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, OLIVER-MCFARLANE SYNDROME, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ?MYOFIBROMATOSIS, INFANTILE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, MYOPATHY DUE TO CPT II DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ?GLYCOGEN STORAGE DISEASE XIII, ?MYOPATHY, SCAPULOHUMEROPERONEAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, NONAKA MYOPATHY

PEX5, SLC34A1, PLCE1, MARS2, CAV1, ADK, FGFR1, SMN2, CDK5, VARS2, LARS, NDUFS2, SDHD, PRPH, VPS53, ACADS, POMT1, PGAM2, NDUFA11, BANF1, CUL3, ERCC8, MOCS2, MT-CO3, HEXB, GBA2, ALDOA, F2, GUSB, AGT, POMGNT1, PMM2, GCK, PPARG, PNPT1, COX6A1, PIGT, PEX13, OAT, VMA21, HERC2, UBA1, HGSNAT, NSDHL, BTK, MCCC2, GJA1, TK2, COQ2, MANBA, COQ7, ALDH6A1, HADH, NDUFS1, LIPE, SMAD4, DPM2, FH, PNPLA2, AIMP1, MT-ATP6, AGK, DES, DDOST, PIK3CA, TRIM32, ALAD, WNK1, PIP5K1C, ARHGDIA, DYSF, ACADSB, LIAS, EMD, ABCA1, SBF1, ACACA, HSD17B10, CAPN3, CPT1A, GNE, PRKAG2, ASAH1, GATM, GNAI2, POLD1, ATP6V0A2, CTSD, COX8A, NUBPL, ACTA1, SLC33A1, PHKB, HSD17B4, RRM2B, SUCLA2, ECHS1, KRAS, APOA1, CBL, TUFM, COQ4, MYH7, AR, NOTCH3, CYP2R1, PGM1, PGK1, NOS3, NDUFS6, THRA, EARS2, NAGA, NDUFA12, LPIN1, RYR1, EPHX1, PIGG, MT-ND6, CASK, POLG, QARS, LMNA, CFL2, ABAT, XRCC4, ARFGEF2, GFPT1, MARS, MRE11A, TALDO1, PLOD1, DHFR, GK, PLOD3, ALG2, WWOX, MRPL44, UCHL1, CD27, AIFM1, EBP, ELOVL4, NDUFA2, MTM1, GNAS, AP1S2, G6PC, ERLIN2, EEF1A2, DSE, GMPPB, TAF1, ATP6V1B2, ERCC5, FKBP14, CHAT, PMPCA, MT-CYB, UQCRQ, NDUFA1, ALDH18A1, XDH, SUMF1, NDST1, PCNA, COX14, PANK2, ENPP1, PNPLA6, KMT2A, ADCY5, NDUFV1, NDUFA10, NOTCH1, INS, MOCS1, DNM2, DMD, MT-CO1, SLC35A2, CAV3, TTR, DPAGT1, GLB1, AGL, AGRN, NDUFB3, PRPS1, NRAS, SCO2, CTNNB1, XYLT2, BCS1L, LDHA, CUL4B, CHST14, SLC4A1, MECP2, INSR, CYP27B1, ITPA, GYS1, ADSL, PDGFRB, TAZ, CTDP1, MT-ND4L, GALNT14, NARS2, B4GALNT1, PYGM, PPP2R1A, NAA10, PYCR2, TNFRSF1A, FLNA, HIBCH, SMC1A, DMGDH, CPT2, TPI1, HADHB, VDR, SMS, DDX58, RAD51, HINT1, TANGO2, NPHS1, CLPB, PGM3, ZMPSTE24, MT-ND1, MTFMT, COX15, DNA2, POMT2, COASY, PDSS2, ACY1, PSAT1, HARS, B4GAT1, MCCC1, TRPM7, NDUFA9, SIL1, HK1, PTEN, PGAP1, KYNU, GCLC, POLG2, NEU1, STAT2, GLYCTK, GAA, COQ9, LYRM4, MT-ND3, SCYL1, NDUFS8, FAH, LCK, GBE1, SSR4, AP1S1, DPM1, DLG3, SDHA, FGF23, MTHFR, HDAC8, PIGC, HNRNPK, NDUFV2, PIGY, GPT2, ACADVL, MT-ND4, GAMT, B3GAT3, TXN2, TGFB1, NONO, PTPN11, RPS6KA3, B4GALT1, PIGN, NEFL, VCP, MTR, RARS, CHKB, MT-CO2, PDSS1, HADHA, ENTPD1, NDUFS4, TPK1, COX6B1, NDUFB9, DNMT1, SLC25A32, BRAF, AMPD1, SUCLG1, GLA, GMPPA, PDGFRA, MT-ND5, ATP5A1, GRIN2B, ENO3, MT-ND2, PEX19, MLYCD, CYP24A1, F10, PFKM, ACO2, MTAP, AMPD2, TYMP, GPI, AGPAT2, NCF1, MYH11, NDUFB11, NDUFS3, NDUFS7, HSPG2, EXT2, SURF1, C10orf2, TMEM199, ATP1A3, COX10, DMPK, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LEBER OPTIC ATROPHY AND DYSTONIA, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ZIMMERMANN-LABAND SYNDROME 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, WRINKLY SKIN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, LEBER OPTIC ATROPHY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, GLYCOGEN STORAGE DISEASE VII, MYASTHENIC SYNDROME, CONGENITAL, 16, MENTAL RETARDATION, X-LINKED 19

NDUFS3, PFKM, NDUFB3, NDUFS1, SCO2, NDUFA12, MT-ND6, MT-ND4, NDUFA11, SDHA, NDUFS6, NDUFA1, COX6A1, TPM3, MT-CO2, NDUFS4, NDUFV2, NDUFB9, SDHD, MT-ND2, COX6B1, MT-ND1, ACO2, ATP5A1, MT-ND5, COX15, MT-ATP6, NDUFS8, NDUFS2, MT-CO3, MT-ND4L, ATP6V0A2, NDUFA2, MT-CYB, UQCRQ, ATP6V1B2, NDUFA9, COX8A, NDUFB11, COX14, RPS6KA3, NDUFV1, NDUFA10, MT-ND3, COX10, NDUFS7, MT-CO1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, LEBER OPTIC ATROPHY AND DYSTONIA, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, TIMOTHY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SHORT SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, LEBER OPTIC ATROPHY, HYPOKALEMIC PERIODIC PARALYSIS 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, BRODY MYOPATHY, MENTAL RETARDATION, X-LINKED 19, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

NDUFS3, GRIN2B, CAV1, TNFRSF1A, NDUFB3, CDK5, MT-ATP6, SDHD, HSD17B10, COX6A1, MT-ND4, NDUFA11, SDHA, NOS3, ATP2A1, NDUFA1, NDUFA12, AGT, RYR1, MT-CO2, CACNA1C, WNK1, NDUFS4, NDUFV2, NDUFB9, NDUFS1, MT-ND2, COX6B1, ACO2, ATP5A1, CACNA1S, NDUFB11, NDUFS6, NDUFS8, NDUFS2, MT-CO3, NDUFA2, MT-CYB, UQCRQ, NDUFV1, NDUFA9, COX8A, MT-ND1, RPS6KA3, DDOST, PIK3R1, NDUFA10, NOTCH1, INS, NDUFS7, MT-CO1

MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), GLYCOGEN STORAGE DISEASE IV, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, MULTIPLE SULFATASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, BARTH SYNDROME, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ADENYLOSUCCINASE DEFICIENCY, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, MYOTUBULAR MYOPATHY, X-LINKED, FANCONI RENOTUBULAR SYNDROME 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, TRANSALDOLASE DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ZIMMERMANN-LABAND SYNDROME 1, AMINOACYLASE 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, MIYOSHI MUSCULAR DYSTROPHY 1, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MOLYBDENUM COFACTOR DEFICIENCY A, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), AGAMMAGLOBULINEMIA, X-LINKED 1, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, NEU-LAXOVA SYNDROME 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MANDIBULOACRAL DYSPLASIA, OGDEN SYNDROME, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, COLE DISEASE, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ATAXIA-TELANGIECTASIA-LIKE DISORDER, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, LEBER OPTIC ATROPHY AND DYSTONIA, CARDIOMYOPATHY, HYPERTROPHIC 6, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), MEND SYNDROME, VLCAD DEFICIENCY, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, COENZYME Q10 DEFICIENCY, PRIMARY, 7, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, ?SPASTIC PARAPLEGIA 63, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, LEUKODYSTROPHY, HYPOMYELINATING, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, CK SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, IMMUNODEFICIENCY 44, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, ACETYL-COA CARBOXYLASE DEFICIENCY, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, WRINKLY SKIN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, NEPHROTIC SYNDROME, TYPE 8, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MIRROR MOVEMENTS 2, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?HYDROXYKYNURENINURIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PERRAULT SYNDROME 1, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, MEDNIK SYNDROME, ?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, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MALONYL-COA DECARBOXYLASE DEFICIENCY, ARTS SYNDROME, OCULOECTODERMAL SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, GLYCOGEN STORAGE DISEASE II, TRIFUNCTIONAL PROTEIN DEFICIENCY, NEPHROTIC SYNDROME, TYPE 3, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, GLYCOGEN STORAGE DISEASE IA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE X, NEPHROTIC SYNDROME, TYPE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), COENZYME Q10 DEFICIENCY, PRIMARY, 5, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PEROXISOME BIOGENESIS DISORDER 11B, PERIODIC FEVER, FAMILIAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), BECKER MUSCULAR DYSTROPHY, D-GLYCERIC ACIDURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, 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, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, LIANG DISTAL MYOPATHY, GLYCOGEN STORAGE DISEASE VII, MALOUF SYNDROME, WIEDEMANN-STEINER SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, TYROSINEMIA, TYPE I, ?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, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, KOSAKI OVERGROWTH SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, GABA-TRANSAMINASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERCALCEMIA, INFANTILE, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MCARDLE DISEASE, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, COENZYME Q10 DEFICIENCY, PRIMARY, 3, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, MARINESCO-SJOGREN SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ?GLYCOGEN STORAGE DISEASE XIII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AU-KLINE SYNDROME, NONAKA MYOPATHY

SLC34A1, NEU1, CAV1, PGAP1, FGFR1, SMN2, CDK5, LARS, NDUFS2, SDHD, PRPH, VPS53, ACADS, ALDH6A1, PGAM2, NDUFA11, PGK1, MOCS2, MT-CO3, GNAI2, GBA2, ALDOA, F2, GUSB, AGT, PMM2, GCK, PPARG, CTNNB1, COX6A1, PIGT, PEX13, OAT, VMA21, HIBCH, PSAT1, UBA1, NSDHL, BTK, MCCC2, KMT2A, TK2, MYH7, COQ7, FGF23, HADH, NDUFS1, COX6B1, SMAD4, DPM2, FH, PNPLA2, MT-ATP6, AGK, DES, ALG2, NDUFV2, WNK1, PIP5K1C, DYSF, ACY1, QARS, LIAS, ARHGDIA, HADHA, COX8A, COQ2, HSD17B10, CAPN3, GNE, PRKAG2, ASAH1, GATM, MT-ND2, ATP6V0A2, SBF1, NUBPL, PCNA, SLC33A1, PHKB, HSD17B4, RRM2B, KRAS, COASY, COQ4, AR, PDSS2, AP1S2, PGM1, NDUFA1, GNAS, NOS3, NDUFS6, EARS2, NDUFA12, LPIN1, RYR1, LDHA, GPI, MT-ND6, CASK, SUMF1, PIK3CA, HEXB, CFL2, ABAT, DDOST, ALAD, ABCA1, SUCLG1, MRE11A, DMPK, AIFM1, GK, ITPA, HGSNAT, MRPL44, AGRN, EBP, SUCLA2, MTM1, TALDO1, G6PC, ERLIN2, PFKM, DSE, GMPPB, HARS, AP1S1, SIL1, FKBP14, MT-CYB, UQCRQ, ATP6V1B2, NDUFA9, XDH, ADK, NDST1, DNM2, COX14, PANK2, ENPP1, TUFM, FAH, NDUFA10, INS, MOCS1, NDUFS7, NDUFS3, CTSD, MT-CO1, ACO2, CAV3, BANF1, DPAGT1, GLB1, AGL, NDUFB3, PRPS1, NRAS, SCO2, XYLT2, PYGM, ENO3, TAF1, MECP2, CYP27B1, ADSL, FLNA, TAZ, CTDP1, MT-ND4L, DMD, WWOX, NARS2, B4GALNT1, BCS1L, PPP2R1A, NAA10, GFPT1, PYCR2, TNFRSF1A, SSR4, SMC1A, DMGDH, GBE1, TPI1, HADHB, VDR, EXT2, SMS, DDX58, RAD51, HINT1, TANGO2, NPHS1, POLG, ATP5A1, MT-ND1, COX15, NCF1, POLD1, ERCC8, PIGC, MCCC1, TRPM7, ACADSB, HK1, NONO, ECHS1, KYNU, GCLC, POLG2, CYP2R1, STAT2, GLYCTK, GAA, LYRM4, MT-ND3, SCYL1, NDUFV1, LCK, NDUFA2, DPM1, DLG3, SDHA, PIGN, MTHFR, HDAC8, ACACA, HNRNPK, PIGY, GPT2, ACADVL, MT-ND4, B3GAT3, TGFB1, PLCE1, PTPN11, RPS6KA3, B4GALT1, NEFL, VCP, MTR, RARS, B4GAT1, MT-CO2, INSR, NOTCH1, NDUFS4, CLPB, TPK1, LMNA, COQ9, NDUFB9, PDGFRB, DNMT1, SLC25A32, BRAF, AMPD1, UBE2A, NDUFS8, GMPPA, PDGFRA, MT-ND5, ATP1A3, UCHL1, SLC35A2, PEX19, GALNT14, MLYCD, GAMT, PMPCA, GJA1, MTAP, AMPD2, TYMP, CD27, AGPAT2, MYH11, NDUFB11, ALDH18A1, HSPG2, CHKB, SURF1, C10orf2, TMEM199, DHFR, COX10, PEX5, PIK3R1, CYP24A1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, LEBER OPTIC ATROPHY AND DYSTONIA, ?INFANTILE LIVER FAILURE SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ZIMMERMANN-LABAND SYNDROME 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, WRINKLY SKIN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, LEBER OPTIC ATROPHY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, GLYCOGEN STORAGE DISEASE VII, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 16, MENTAL RETARDATION, X-LINKED 19

PFKM, LARS, SDHD, NDUFB3, NDUFS3, SCO2, NDUFA12, BCS1L, COX6A1, MT-ND4, NDUFA11, SDHA, MT-CO3, NDUFS6, NDUFA1, NDUFS7, MT-CO2, NDUFA2, NDUFS4, NDUFV2, CTNNB1, NDUFB9, NDUFS1, NDUFA10, COX6B1, MT-ND1, ACO2, ATP5A1, MT-ND5, COX15, MT-ATP6, NDUFS8, NDUFS2, SLC4A1, MT-ND4L, ATP6V0A2, PMPCA, MT-CYB, UQCRQ, ATP6V1B2, NDUFA9, COX8A, NDUFB11, COX14, MT-ND6, RPS6KA3, DDOST, NDUFV1, MT-ND2, INS, MT-ND3, COX10, MT-CO1

GLYCOGEN STORAGE DISEASE IV, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BARTH SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, PITUITARY ADENOMA, ACTH-SECRETING, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, NEPHROTIC SYNDROME, TYPE 8, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), OSSEOUS HETEROPLASIA, PROGRESSIVE, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, FUMARASE DEFICIENCY, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ARTS SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE II, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, NEPHROTIC SYNDROME, TYPE 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MARINESCO-SJOGREN SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), IMMUNODEFICIENCY 23, GLYCOGEN STORAGE DISEASE X, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, LIANG DISTAL MYOPATHY, GLYCOGEN STORAGE DISEASE VII, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALONYL-COA DECARBOXYLASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, GABA-TRANSAMINASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MCARDLE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, COENZYME Q10 DEFICIENCY, PRIMARY, 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MYHRE SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, GLYCOGEN STORAGE DISEASE 0, MUSCLE, NEPHROTIC SYNDROME, TYPE 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, 2-METHYLBUTYRYLGLYCINURIA, ?GLYCOGEN STORAGE DISEASE XIII, COLE DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, NONAKA MYOPATHY

CAV1, KMT2A, NCF1, ACADS, PGAM2, PGK1, PIK3CA, HEXB, GLB1, GUSB, AGT, PMM2, PPARG, HIBCH, CTNNB1, GLYCTK, MYH7, HADH, FH, MLYCD, G6PC, PIP5K1C, ACADSB, ARHGDIA, HADHA, HK1, GNAI2, PTEN, SDHD, GBE1, PGM1, GNAS, NOTCH1, ABAT, GPI, ALDH6A1, CFL2, GFPT1, ITPA, MTM1, SUCLA2, AP1S2, PFKM, TNFRSF1A, TALDO1, ENPP1, INS, CTSD, CAV3, ALDOA, AGL, UBE2A, PRPS1, SMAD4, LDHA, GYS1, GMPPB, TAZ, GCK, PYGM, TPI1, ACACA, VCP, TANGO2, NPHS1, PGM3, TRPM7, SIL1, GNE, PEX5, ECHS1, BTK, GAA, LCK, PDSS2, SDHA, PLCE1, PTPN11, B4GALT1, HADHB, INSR, SUCLG1, GLA, GMPPA, PCNA, ATP5A1, ENO3, ACO2, DHFR

GLYCOGEN STORAGE DISEASE X, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, RIPPLING MUSCLE DISEASE, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYHRE SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, TRANSALDOLASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, NEPHROTIC SYNDROME, TYPE 8, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), 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, ARTS SYNDROME, FUMARASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, GLYCOGEN STORAGE DISEASE XII, NEU-LAXOVA SYNDROME 2, GLYCOGEN STORAGE DISEASE VII, MYOPATHY, DISTAL, TATEYAMA TYPE, ?GLYCOGEN STORAGE DISEASE XIII, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

CAV3, SDHD, ALDOA, SDHA, CTNNB1, PRPS1, SMAD4, ACADS, ALDH6A1, PGAM2, PGK1, ENO3, GPT2, GCK, GPI, MTHFR, HIBCH, HADHA, TPI1, ITPA, VCP, SUCLG1, FH, PCNA, ATP5A1, PFKM, RAD51, PSAT1, ACO2, ARHGDIA, GFPT1, ECHS1, TALDO1, CAPN3, SUCLA2, HK1, INS, HADHB

CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, BROWN-VIALETTO-VAN LAERE SYNDROME 1, BARTTER SYNDROME, TYPE 2, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, 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, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MYASTHENIC SYNDROME, CONGENITAL, 19, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, MULTIPLE SULFATASE DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SITOSTEROLEMIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, CAPOS SYNDROME, TRANSCOBALAMIN II DEFICIENCY, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MENTAL RETARDATION, X-LINKED 102, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI RENOTUBULAR SYNDROME 2, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 1, BETHLEM MYOPATHY 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, HYPOMAGNESEMIA 2, RENAL, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CREATINE PHOSPHOKINASE, ELEVATED SERUM, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GLYCOGEN STORAGE DISEASE IA, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?MYOSCLEROSIS, CONGENITAL, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BECKER MUSCULAR DYSTROPHY, HYPOMAGNESEMIA 1, INTESTINAL, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, GLYCOGEN STORAGE DISEASE XI, TRYPSINOGEN DEFICIENCY, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LEUKODYSTROPHY, HYPOMYELINATING, 9, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, LYMPHOPROLIFERATIVE SYNDROME 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ATAXIA-OCULOMOTOR APRAXIA 3, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

SLC34A1, F2, EPHX1, NCF1, ATP2B3, PRKACA, NALCN, GNAS, PIK3CA, COL3A1, CAV1, MAG, AGT, PPARG, COL5A1, UBE2A, BTK, COL6A1, TRPM6, DES, G6PC, NOTCH1, COL13A1, CAPN3, GNAI2, CTNNB1, PRSS1, APOA1, COL6A2, SGCA, NOS3, ATP2A1, DAG1, RYR1, GPI, MEF2C, COL1A2, ABCA1, KIF5C, CBL, KCNJ1, CD27, PFKM, DSE, ABCG8, KRIT1, SLC7A7, FGF23, ACVR1, ADCY5, INS, SNAP25, CTSD, TCN2, CAV3, TTR, DDX3X, GJA1, LDHA, FLT4, CTCF, CASR, DMD, COL4A1, PPP2R1A, TUBB3, VDR, ACACA, ATP1A3, TRPM7, HK1, PTEN, TRPV4, PIK3R5, COL6A3, SUMF1, LCK, SSR4, FLNA, PIK3R2, ABCG5, COL5A2, TGFB1, RARS, FXYD2, SLC52A3, CACNA1C, INSR, PTPN11, COL9A3, LIPE, SGCG, PCNA, ATP5A1, GRIN2B, GRM1, AGPAT2, MYH11, HSPG2, PIK3R1

GM1-GANGLIOSIDOSIS, TYPE III, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, GLYCOGEN STORAGE DISEASE VII, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, GLYCOGEN STORAGE DISEASE II, GLYCOGEN STORAGE DISEASE IA

B4GALT1, GAA, GLB1, HK1, GCK, GLA, AP1S2, PFKM, INS, G6PC, PGM1, NOTCH1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPOMAGNESEMIA 2, RENAL, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NON-IMMUNE HYDROPS FETALIS, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 5, DUCHENNE MUSCULAR DYSTROPHY, TIMOTHY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CREATINE PHOSPHOKINASE, ELEVATED SERUM, RIPPLING MUSCLE DISEASE, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, SHORT SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CAPOS SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, PITUITARY ADENOMA, ACTH-SECRETING, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, LIANG DISTAL MYOPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CLOVE SYNDROME, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LEBER OPTIC ATROPHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, HYPOKALEMIC PERIODIC PARALYSIS 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, 1, PSEUDOHYPOALDOSTERONISM, TYPE 2, BECKER MUSCULAR DYSTROPHY, AU-KLINE SYNDROME, MIRROR MOVEMENTS 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ATAXIA-OCULOMOTOR APRAXIA 3, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, GLYCOGEN STORAGE DISEASE VII, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, DISTAL, TATEYAMA TYPE, BRODY MYOPATHY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, HYPOCALCEMIA, AUTOSOMAL DOMINANT 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, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

PLIN1, LCK, CAV3, GRIN2B, F2, FGFR1, CTNNB1, CDK5, NRAS, HNRNPK, PRKACA, PRPH, SLC9A6, GNA11, PIK3R2, MT-CO3, NOS3, CUL3, PPP2R1A, ATP2A1, TGFB3, CASR, AGT, DMD, EPHX1, FXYD2, MT-CO2, CACNA1C, PPP1R3A, PTPN11, ADCY5, KRAS, MEF2C, KIF5C, MYH7, ECHS1, BRAF, COX6B1, TPM2, ATP1A3, CAPN3, L1CAM, GNAS, ATP2B3, PFKM, DES, UQCRQ, PIK3CA, SCN8A, DCC, CACNA1S, MT-CYB, TRPM7, TPM3, COX8A, MYH11, PIK3R5, NEB, DDOST, PIK3R1, GNAI2, ABCC8, COX6A1, RYR1, MT-CO1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LEBER OPTIC ATROPHY AND DYSTONIA, NON-IMMUNE HYDROPS FETALIS, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COCKAYNE SYNDROME, TYPE A, NESTOR-GUILLERMO PROGERIA SYNDROME, PERRAULT SYNDROME 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, LEBER OPTIC ATROPHY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GLYCOGEN STORAGE DISEASE VII, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, X-LINKED 19

SOD1, HSD17B4, NDUFS8, F2, NDUFB3, CDK5, NDUFS3, MT-ATP6, SDHD, NDUFA12, COX6A1, MT-ND4, NDUFA11, BANF1, SDHA, NOS3, AR, AP2S1, NDUFA1, NDUFS4, GRIN2B, NDUFS7, PPARG, MT-CO2, MECP2, DNAH14, NDUFV2, NDUFB9, NDUFS1, MT-ND2, COX6B1, ACO2, ATP5A1, SLC25A4, NDUFB11, DCTN1, NDUFS6, PFKM, NDUFS2, MT-CO3, ERCC8, NDUFA2, MT-CYB, UQCRQ, NDUFA9, COX8A, RPS6KA3, CTDP1, NDUFV1, NDUFA10, TUFM, MT-CO1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPOMAGNESEMIA 2, RENAL, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, LIANG DISTAL MYOPATHY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, LEBER OPTIC ATROPHY, HYPOKALEMIC PERIODIC PARALYSIS 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, BRODY MYOPATHY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

CACNA1S, MYH7, COX6B1, UQCRQ, TPM3, TPM2, MT-CYB, SLC9A6, CACNA1C, FXYD2, MT-CO2, GRIN2B, ATP1A3, MT-CO3, COX6A1, ATP2A1, COX8A, MT-CO1

HYPOMAGNESEMIA 2, RENAL, NON-IMMUNE HYDROPS FETALIS, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, DUCHENNE MUSCULAR DYSTROPHY, TIMOTHY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CREATINE PHOSPHOKINASE, ELEVATED SERUM, RIPPLING MUSCLE DISEASE, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SHORT SYNDROME, CAPOS SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, PITUITARY ADENOMA, ACTH-SECRETING, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, HYPOKALEMIC PERIODIC PARALYSIS 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, 1, BECKER MUSCULAR DYSTROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, ATAXIA-OCULOMOTOR APRAXIA 3, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, DISTAL, TATEYAMA TYPE, BRODY MYOPATHY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

PLIN1, CAV3, F2, CTNNB1, HNRNPK, CDK5, PIK3R2, GNAS, NOS3, CACNA1C, ATP2A1, RYR1, FGFR1, NEB, PRKACA, PPP2R1A, PPP1R3A, PTPN11, KRAS, MYH7, TPM2, ATP1A3, L1CAM, ATP2B3, GRIN2B, DES, PIK3CA, SCN8A, CACNA1S, TPM3, PIK3R5, FXYD2, ADCY5, GNAI2, DMD, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, LEBER OPTIC ATROPHY AND DYSTONIA, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, NEPHROTIC SYNDROME, TYPE 8, LEBER OPTIC ATROPHY, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), OSSEOUS HETEROPLASIA, PROGRESSIVE, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MENTAL RETARDATION, X-LINKED 19, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE

PCNA, NDUFS3, NDUFS8, GNAI2, NDUFB3, CDK5, MT-ATP6, SDHD, NDUFA12, MT-ND6, MT-ND4, NDUFA11, GNAS, SDHA, NDUFS6, NDUFA1, NDUFS4, GRIN2B, TPM3, MT-CO2, UBA1, ADCY5, NDUFV2, CTNNB1, NDUFB9, NDUFS1, NDUFA10, COX6B1, MT-ND1, ACO2, ATP5A1, SLC25A4, MT-ND5, SUCLA2, UCHL1, NDUFS2, MT-CO3, MT-ND4L, NDUFA2, MT-CYB, UQCRQ, NDUFA9, PRKACA, ARHGDIA, COX8A, NDUFB11, RPS6KA3, DDOST, NDUFV1, MT-ND2, INS, MT-ND3, COX6A1, NDUFS7, MT-CO1