METABOLIC FEATURES

ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB

BCKDHB, DBT, BCKDHA, OGDH

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PROPIONICACIDEMIA, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITUITARY ADENOMA, ACTH-SECRETING, METHYLMALONYL-COA EPIMERASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PEPCK DEFICIENCY, MITOCHONDRIAL, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, OPSISMODYSPLASIA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEPHRONOPHTHISIS 1, JUVENILE, ?INFANTILE LIVER FAILURE SYNDROME 1, LACTASE DEFICIENCY, CONGENITAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE I, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), METHYLMALONIC ACIDURIA CBLB TYPE, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, VLCAD DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BIOTINIDASE DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MALONYL-COA DECARBOXYLASE DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, HYPEROXALURIA, PRIMARY, TYPE 1, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, CONGENITAL DISORDER OF DEGLYCOSYLATION, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIPOID ADRENAL HYPERPLASIA, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, ISOVALERIC ACIDEMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, 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, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

ISCU, FARS2, LCT, UCP1, NGLY1, BCKDHB, ACADS, GNAS, TBX19, AGRP, DGUOK, MUC1, YARS2, ATP6V1B2, PCCB, PPARG, PCK2, MCCC2, TK2, BAAT, HADH, COX6B1, FH, NDUFB11, MMAB, MLYCD, AGXT, OGDH, DLD, AUH, UMPS, LIPT1, GNAI2, ETFDH, NR3C2, PRSS1, HMGCS2, ITPR3, QDPR, NME1, CA5A, LYRM7, ALDH6A1, EDA, BTD, AKT2, MSMO1, HADHA, SUCLG1, BCKDHA, EARS2, SUCLA2, NKX2-1, MCEE, TNFRSF1A, SDC3, FBXL4, ACADVL, NDUFA10, LRP6, MC4R, LARS, GLB1, ACAT1, NDUFS3, SCO2, HSD17B10, SDHD, HLA-DRB1, IARS2, ALDH2, NARS2, DBH, HMGCL, INPPL1, NDUFS1, CFTR, MUT, ETFA, SLC25A4, LIPE, DBT, CSNK1D, MCCC1, NDUFA9, ACADSB, ACADM, MMAA, ECHS1, POMC, LYRM4, CYC1, OTC, SDHAF1, UQCC2, NGF, NR3C1, NPHP1, PDHA1, PDHX, ETFB, UQCRC2, MT-CO2, PCCA, TANGO2, CPS1, STAR, BDNF, PDP1, DLAT, TUFM, GHRL, SARS2, IVD, MTHFD1, C10orf2, PC, RYR1, NDUFS2

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, 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 III DEFICIENCY, NUCLEAR TYPE 6, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

NDUFS3, NDUFAF1, NDUFB3, NDUFS1, NDUFA12, MT-ND4, NDUFA11, SDHA, PDHA1, PDHX, NDUFA1, NDUFS7, BCS1L, NDUFS4, NDUFV2, UQCRB, SDHD, DLAT, UQCRC2, MT-ND1, NDUFS6, MT-ND5, NDUFS8, NDUFS2, DBT, NDUFA2, NDUFA9, OGDH, DLD, CYC1, BCKDHB, NDUFB11, NDUFB9, NDUFA10, MT-ND3, NDUFV1, BCKDHA

TRIFUNCTIONAL PROTEIN DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), HMG-COA LYASE DEFICIENCY, DYSAUTONOMIA, FAMILIAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, HYPEROXALURIA, PRIMARY, TYPE 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?FANCONI RENOTUBULAR SYNDROME 3, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}

TMEM173, BAAT, MPV17, HADHB, IKBKAP, MTHFD1, PNPLA8, HMGCL, DNM1L, PTS, MLYCD, NDUFS2, AGXT, EHHADH, PEX6

CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE IA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM

DOLK, STIM1, HLA-DRB1, POMC, CTNS, G6PC

CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CONGENITAL DISORDER OF DEGLYCOSYLATION, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, IMMUNODEFICIENCY 10, MEDULLARY CYSTIC KIDNEY DISEASE 1, CPT DEFICIENCY, HEPATIC, TYPE IA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, GLYCOGEN STORAGE DISEASE IA

CTNS, DOLK, MUC1, TMEM70, STIM1, CFTR, SDC3, AGL, CPT1A, ETFA, HLA-DRB1, POMC, NGLY1, STX11, ETFDH, G6PC, NGF

OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 1, JUVENILE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ZIMMERMANN-LABAND SYNDROME 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, IMMUNODEFICIENCY 10, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, LIDDLE SYNDROME, BARTTER SYNDROME, TYPE 2, HYPERALDOSTERONISM, FAMILIAL, TYPE III, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SENIOR-LOKEN SYNDROME-1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

STIM1, CFTR, KCNJ1, NGF, ITPR3, KCNJ5, SCNN1A, CACNA1S, SCNN1G, SCNN1B, ADRB2, KCNH1, ABCC8, NPHP1, CACNA1A, CACNA1D, CSNK1D

TRIFUNCTIONAL PROTEIN DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, VLCAD DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

POLG, LRPPRC, DLD, DBT, HADHB, ACADVL, UQCC2, C10orf2, TUFM, HADHA, CPS1

TRIFUNCTIONAL PROTEIN DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, VLCAD DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

POLG, LRPPRC, DLD, DBT, HADHB, ACADVL, UQCC2, C10orf2, TUFM, HADHA, CPS1

OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

HLA-DRB1, LRP6, POMC

MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB

BCKDHB, DBT, BCKDHA

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, DIABETES INSIPIDUS, NEPHROGENIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, BARTH SYNDROME, DIARRHEA 6, LYSINURIC PROTEIN INTOLERANCE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFANTILE LIVER FAILURE SYNDROME 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, GLUCOCORTICOID RESISTANCE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MEDULLARY CYSTIC KIDNEY DISEASE 1, GLUCOCORTICOID DEFICIENCY 2, HEPATIC ADENOMA, SOMATIC, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, INSOMNIA, FATAL FAMILIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, PYRUVATE CARBOXYLASE DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, PSEUDOHYPOALDOSTERONISM, TYPE I, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), GLYCOGEN STORAGE DISEASE IA, CITRULLINEMIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PEROXISOME BIOGENESIS DISORDER 4B, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEPHRONOPHTHISIS 1, JUVENILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, LACTASE DEFICIENCY, CONGENITAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, LOWE SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, GLYCOGEN STORAGE DISEASE II, SENIOR-LOKEN SYNDROME-1, TRIFUNCTIONAL PROTEIN DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, LIPOID ADRENAL HYPERPLASIA, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLYCEROL KINASE DEFICIENCY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MODY, TYPE III, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, RENAL TUBULAR ACIDOSIS, DISTAL, AD, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, SENGERS SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, SESAME SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PERIODIC FEVER, FAMILIAL, DIABETES INSIPIDUS, NEPHROGENIC, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, DYSAUTONOMIA, FAMILIAL, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, NEPHRONOPHTHISIS 11, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MICROCEPHALY, AMISH TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, NETHERTON SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED

UCP1, AGK, LCT, COQ9, ADRB2, BCKDHB, ACADS, MT-ND6, NDUFA11, CUL3, G6PC, NPHP1, MUC1, CYP11B2, ATP6V1B2, ENPP1, PPARG, SDHA, TK2, COQ2, ECE1, HADH, COX6B1, MRAP, FH, NDUFB11, MT-ATP6, MPV17, MT-CO3, COX20, MSMO1, WNK1, CYP2C19, ACADSB, DLD, COX8A, CECR1, CPT2, CPT1A, UMPS, CPS1, GNAI2, ETFDH, NR3C2, USP8, HMGCS2, ECHS1, NDUFAF3, NDUFAF6, QDPR, POMC, NME1, PSMB8, OCRL, SLC25A19, GCH1, NDUFA12, RYR1, SCNN1A, EDA, ALG11, PEX6, AKT2, NNT, AGXT, HADHA, ASS1, GTPBP3, GK, NDUFAF4, IKBKAP, EARS2, NR0B1, HLA-DRB1, PNPLA8, GNAS, MPC1, HNF4A, DNM1L, SUCLA2, NDUFS2, SLC4A1, CACNA1A, MT-ND3, TNFRSF1A, TMEM173, NDUFA1, GUCY2C, SLC7A7, CYP21A2, NKX2-1, CYP2D6, BDNF, ADRB3, NDUFA10, SLC26A3, LRP6, MC4R, VPS33B, TUFM, LARS, STIM1, GLB1, AGL, ACAT1, NDUFB3, ETFA, SCO2, STX11, HSD17B10, BCS1L, SDHD, SFXN4, MRPS16, SLC29A3, SUCLG1, MC2R, TAZ, ITPR3, NDUFS7, NARS2, KIF1B, TMEM70, CHRNA1, DBH, NDUFA2, HMGCL, FOXP3, SLC25A26, ASCL1, LRPPRC, UQCRC2, POLG, NDUFS6, SLC25A4, MT-ND1, COX15, AVPR2, WNK4, CSNK1D, TMEM165, TMEM67, MCCC1, HNF1A, SDC3, OGDH, AQP2, ACADM, KCNH1, COX10, GAA, PER2, PAH, NDUFV1, OTC, NDUFS3, UQCC2, NGF, SPINK5, NDUFS1, PTS, COX14, MT-ND4, KCNJ10, NTRK1, PRNP, NDUFA9, NR3C1, CFTR, NDUFB9, ETFB, MT-CO2, SCO1, NDUFS4, NDUFV2, DST, UQCRB, STAR, NDUFS8, MT-ND5, RET, CTNS, UCP3, PC, GHRL, ACADVL, DOLK, SARS2, CYC1, NR0B2, FBP1, SLC25A20, MT-CO1, C10orf2, CYP17A1, MTRR, HADHB, SURF1, CYP24A1

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}

LRP6, STX11, HLA-DRB1, POMC

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}

HLA-DRB1, LRP6

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, GLYCOGEN STORAGE DISEASE VI, BARTTER SYNDROME, TYPE 2, BARTH SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 4, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HYPERCHLORHIDROSIS, ISOLATED, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, PITUITARY DEPENDENT HYPERCORTISOLISM, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CITRULLINEMIA, OPSISMODYSPLASIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, ?INFANTILE LIVER FAILURE SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, FUMARASE DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 2A, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?FANCONI RENOTUBULAR SYNDROME 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, D-GLYCERIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, SENGERS SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, CPT DEFICIENCY, HEPATIC, TYPE IA, CPT DEFICIENCY, HEPATIC, TYPE II, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, NEPHRONOPHTHISIS 11, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIVER FAILURE, TRANSIENT INFANTILE, MICROCEPHALY, AMISH TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

ISCU, MPV17, HLCS, FARS2, COQ9, UCP1, COX14, CPT2, ACADS, NDUFA11, GNAS, DGUOK, CYP11B2, NDUFA1, PCCB, PPARG, SDHA, ELAC2, MCCC2, GLYCTK, FOXRED1, HADH, COX6B1, IBA57, MCCC1, FH, NDUFB11, SCO2, MLYCD, COX20, NDUFV2, APOPT1, ACADSB, DLD, MTO1, NDUFA12, PET100, AUH, UMPS, LIPT1, CPS1, AARS2, NUBPL, SDHD, ACADM, NDUFAF6, QDPR, MT-ATP6, NME1, PYGL, CA5A, KCNJ1, RYR1, ADCK3, ALDH6A1, ATP1A2, AKT2, NNT, GFM1, HADHA, FASTKD2, BCKDHA, NDUFAF4, GNAI2, EARS2, ASS1, ACAD9, HLA-DRB1, SUCLA2, MPC1, DNM1L, VPS33B, MCEE, GTPBP3, IARS2, NDUFA9, TRNT1, CYP2D6, HMGCS2, NFU1, ABCC8, NDUFS3, MT-CO1, LARS, YARS2, AGL, ACAT1, HSD17B10, LIAS, MMAB, OAS1, HNF4A, CPT1A, SLC25A19, MRPS16, NDUFAF2, TSFM, TAZ, NDUFS7, NARS2, BCS1L, KIF1B, HMGCL, MMACHC, INPPL1, SLC25A26, RMND1, LRPPRC, MUT, UQCRC2, TMEM67, NDUFS6, SLC25A4, MT-ND1, COX15, DBT, PCK2, CSNK1D, CA12, BCKDHB, OGDH, ECHS1, POMC, COX10, PPARGC1B, LYRM4, PAH, ATPAF2, NDUFV1, OTC, SDHAF1, NDUFAF1, SUCLG1, UQCC2, NGF, MTFMT, NDUFS1, PTS, MTHFD1, SERAC1, MYH3, AGK, MRPS22, PDHX, UCP3, MTR, PDHA1, ETFB, IKBKAP, MT-CO2, SCO1, NDUFS4, PCCA, ETFA, NDUFB9, NDUFA10, SLC16A1, AGXT, EHHADH, NDUFS8, PUS1, TACO1, PDP1, DLAT, CTNS, TUFM, GHRL, ACADVL, POLG, SARS2, CYC1, TRMU, SLC25A20, C10orf2, UQCRB, CYP17A1, PC, HADHB, NDUFS2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPOID ADRENAL HYPERPLASIA, GLUCOCORTICOID DEFICIENCY 4

NDUFS3, TMEM70, MT-ND4, NDUFB3, ETFA, NDUFS1, MT-ATP6, MT-CO1, NDUFA12, BCS1L, NDUFAF1, NDUFA11, SURF1, SDHA, NDUFA1, NDUFS7, UQCRC2, MT-CO2, WNK1, NDUFS4, NNT, NDUFV2, CPT1A, NDUFB9, SDHD, STAR, NDUFS6, MT-ND5, COX15, NDUFS8, NDUFS2, MT-CO3, ETFDH, NDUFA2, NDUFA9, NDUFAF5, CYC1, MT-ND1, NDUFB11, UQCRB, NDUFA10, MT-ND3, NDUFV1

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 III DEFICIENCY, NUCLEAR TYPE 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5

UQCRC2, BCS1L, UQCRB

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, MALONYL-COA DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ?INFANTILE LIVER FAILURE SYNDROME 1, HMG-COA LYASE DEFICIENCY, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, FUMARASE DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, HYPEROXALURIA, PRIMARY, TYPE 1, LIPOYLTRANSFERASE 1 DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, VLCAD DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ALPHA-METHYLACETOACETIC ACIDURIA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, OPSISMODYSPLASIA, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, PROPIONICACIDEMIA, 2-METHYLBUTYRYLGLYCINURIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUCOCORTICOID RESISTANCE, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, ISOVALERIC ACIDEMIA, METHYLMALONYL-COA EPIMERASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, 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, BIOTINIDASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

OTC, TUFM, NDUFS3, DLAT, YARS2, SUCLA2, UQCC2, FARS2, SDHAF1, MMAB, ALDH6A1, HSD17B10, ACADS, POMC, PDHA1, DGUOK, NDUFA9, PDHX, ACADSB, IARS2, LYRM7, ACAT1, UMPS, MT-CO2, HADH, BTD, MMAA, HMGCL, NR3C1, ECHS1, PCK2, TK2, HADHA, SUCLG1, INPPL1, LARS, NDUFS1, NDUFA10, EARS2, CPS1, MUT, ETFA, PDP1, CA5A, FH, SLC25A4, UQCRC2, ETFDH, MLYCD, ALDH2, MCEE, DBT, AGXT, PCCA, MCCC1, OGDH, SARS2, RYR1, DLD, MCCC2, IVD, ACADM, BCKDHB, ACADVL, ETFB, AUH, ISCU, LIPT1, BCKDHA, C10orf2, NARS2, LYRM4, PC, PCCB, HMGCS2

AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, GLUCOCORTICOID RESISTANCE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

HLA-DRB1, PSMB8, CFTR, VPS33B, NR3C1, TMEM165, NTRK1, SLC29A3

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, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE

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

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, NEPHRONOPHTHISIS 1, JUVENILE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, LIDDLE SYNDROME, BARTTER SYNDROME, TYPE 2, CPT DEFICIENCY, HEPATIC, TYPE IA, PERIODIC FEVER, FAMILIAL, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, SENIOR-LOKEN SYNDROME-1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, BARTTER SYNDROME, TYPE 3, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ZIMMERMANN-LABAND SYNDROME 1, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, 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, BARTTER SYNDROME, TYPE 4B, DIGENIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

KCNJ5, NGF, SCNN1G, CLCNKA, BCS1L, CHRNG, SCNN1A, SCNN1B, NPHP1, CFTR, CACNA1D, CHRNA1, MT-CO2, ATP1A2, BSND, UQCRC2, UQCRB, KCNJ1, CPT1A, CACNA1S, CLCNKB, ADRB2, CACNA1A, CSNK1D, AQP2, KCNH1, TNFRSF1A, UMPS, CHRND, ABCC8, CYC1, MT-CO1

FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?INFANTILE LIVER FAILURE SYNDROME 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TRICHOHEPATOENTERIC SYNDROME 1, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, BECKWITH-WIEDEMANN SYNDROME, NEPHRONOPHTHISIS 4, GLYCOGEN STORAGE DISEASE VI, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), PERIODIC FEVER, FAMILIAL, FAMILIAL MEDITERRANEAN FEVER, AD, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, SENIOR-LOKEN SYNDROME 4, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, ARTHROGRYPOSIS, DISTAL, TYPE 2A, GLUCOCORTICOID RESISTANCE, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PSEUDOHYPOALDOSTERONISM, TYPE IID, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, DYSAUTONOMIA, FAMILIAL, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOALDOSTERONISM, TYPE IIE, 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 1 (MNGIE TYPE), MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, FAMILIAL MEDITERRANEAN FEVER, AR, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), OPSISMODYSPLASIA, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, KABUKI SYNDROME 2, PROPIONICACIDEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

TUFM, NDUFS3, NDUFAF1, SDHA, AGL, NGF, KDM6A, LARS, TTC37, NDUFA12, INPPL1, BCS1L, MT-ND4, NDUFA11, PYGL, PDHA1, CUL3, SUCLG1, NDUFA9, PDHX, KLHL3, NDUFA1, PCCB, HLA-DRB1, PPARG, IKBKAP, HNF4A, ATP1A2, NDUFA2, NDUFS4, MYH3, NPHP4, NDUFV2, NDUFB3, UQCRB, MEFV, SDHD, NDUFA10, CFTR, THRA, DLAT, NR0B1, POLG, NDUFS6, MT-ND5, UQCRC2, NDUFS8, NDUFS2, DBT, ABCC8, CSNK1D, GTPBP3, CDKN1C, BCKDHB, OGDH, DLD, CYC1, DST, FBXL4, MT-ND1, NR3C1, TNFRSF1A, PRKAG2, NDUFB11, NDUFB9, GNAI2, SLC26A3, MT-ND3, NDUFS1, NDUFS7, NDUFV1, BCKDHA

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, NEPHRONOPHTHISIS 1, JUVENILE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, LIDDLE SYNDROME, BARTTER SYNDROME, TYPE 2, CPT DEFICIENCY, HEPATIC, TYPE IA, PERIODIC FEVER, FAMILIAL, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, SENIOR-LOKEN SYNDROME-1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, BARTTER SYNDROME, TYPE 3, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ZIMMERMANN-LABAND SYNDROME 1, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, 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, BARTTER SYNDROME, TYPE 4B, DIGENIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

KCNJ5, NGF, SCNN1G, CLCNKA, BCS1L, CHRNG, SCNN1A, SCNN1B, NPHP1, CFTR, CACNA1D, CHRNA1, MT-CO2, ATP1A2, BSND, UQCRC2, UQCRB, KCNJ1, CPT1A, CACNA1S, CLCNKB, ADRB2, CACNA1A, CSNK1D, AQP2, KCNH1, TNFRSF1A, UMPS, CHRND, ABCC8, CYC1, MT-CO1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HMG-COA LYASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, VLCAD DEFICIENCY, SENGERS SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IIC, BARTH SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE II, PYRUVATE CARBOXYLASE DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LYSINURIC PROTEIN INTOLERANCE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLYCEROL KINASE DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, ALPHA-METHYLACETOACETIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MICROCEPHALY, AMISH TYPE, CITRULLINEMIA, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITUITARY ADENOMA, ACTH-SECRETING, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, GLUCOCORTICOID DEFICIENCY 4, COENZYME Q10 DEFICIENCY, PRIMARY, 1, INSOMNIA, FATAL FAMILIAL, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

UCP1, AGK, COQ9, CPT2, ACADS, NDUFA11, CUL3, MUC1, CYP11B2, NDUFA1, ACAT1, TK2, HADH, COX6B1, NDUFB11, MT-ATP6, MPV17, MT-CO3, COX20, WNK1, DLD, COX8A, COQ2, HSD17B10, UMPS, CPS1, GNAI2, ETFDH, HMGCS2, ECHS1, NDUFAF3, NDUFAF6, NME1, SFXN4, MT-ND6, AKT2, NNT, MSMO1, HADHA, SUCLG1, GK, NDUFAF4, ASS1, SUCLA2, MPC1, DNM1L, TNFRSF1A, TMEM173, BCKDHB, NDUFA9, SLC7A7, COX14, CYP24A1, NDUFA10, MT-CO1, PPARG, NDUFB3, SCO2, NDUFA12, BCS1L, SDHD, SLC25A19, TAZ, NDUFS7, TMEM70, NDUFA2, HMGCL, NR3C1, SLC25A26, ETFA, NDUFS6, SLC25A4, MT-ND1, COX15, MCCC1, OGDH, ITPR3, POMC, COX10, MT-ND3, NDUFV1, OTC, NDUFS3, UQCC2, NDUFS1, ACADVL, MT-ND4, PRNP, SDHA, UCP3, HADHB, MT-CO2, SCO1, NDUFS4, NDUFV2, UQCRC2, NDUFB9, CPT1A, NDUFS8, MT-ND5, TUFM, POLG, CYC1, SLC25A20, C10orf2, UQCRB, PC, NDUFS2

OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AR, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

HLA-DRB1, CFTR, NGF, POMC, DBH, SLC4A1, AQP2

MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB

SUCLG1, DBT, BCKDHB, BCKDHA

OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PITUITARY ADENOMA, ACTH-SECRETING, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

GNAS, HLA-DRB1, TMEM165, POMC

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, ZIMMERMANN-LABAND SYNDROME 1, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MEDULLARY CYSTIC KIDNEY DISEASE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PROPIONICACIDEMIA, PITUITARY ADENOMA, ACTH-SECRETING, METHYLMALONYL-COA EPIMERASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PEPCK DEFICIENCY, MITOCHONDRIAL, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, OPSISMODYSPLASIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, ?INFANTILE LIVER FAILURE SYNDROME 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE I, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, METHYLMALONIC ACIDURIA CBLB TYPE, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, VLCAD DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BIOTINIDASE DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MALONYL-COA DECARBOXYLASE DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, PYRUVATE CARBOXYLASE DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, CONGENITAL DISORDER OF DEGLYCOSYLATION, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, ISOVALERIC ACIDEMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, 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, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

ISCU, FARS2, UCP1, NGLY1, BCKDHB, ACADS, TBX19, AGRP, DGUOK, MUC1, YARS2, ATP6V1B2, PCCB, PPARG, ECHS1, PCK2, MCCC2, TK2, BAAT, HADH, FH, MLYCD, OGDH, DLD, AUH, UMPS, LIPT1, GNAI2, ETFDH, MMAA, HMGCS2, ITPR3, QDPR, CA5A, LYRM7, ALDH6A1, EDA, BTD, AKT2, AGXT, HADHA, BCKDHA, EARS2, SUCLA2, NKX2-1, MCEE, TNFRSF1A, SDC3, ACADVL, NDUFA10, LRP6, MC4R, LARS, GLB1, ACAT1, NDUFS3, MMAB, HSD17B10, HLA-DRB1, IARS2, ALDH2, NARS2, HMGCL, INPPL1, NDUFS1, CFTR, MUT, ETFA, SLC25A4, DBT, CSNK1D, MCCC1, NDUFA9, ACADSB, PRSS1, ACADM, POMC, LYRM4, OTC, SDHAF1, UQCC2, NGF, NR3C1, PDHA1, PDHX, ETFB, UQCRC2, MT-CO2, PCCA, TANGO2, CPS1, SUCLG1, BDNF, PDP1, DLAT, TUFM, GHRL, SARS2, IVD, MTHFD1, C10orf2, PC, RYR1, NDUFS2

FUMARASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

OGDH, SUCLG1, FH, BCKDHB, DBT, BCKDHA

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, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE

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

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 IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5

MT-CO3, UQCRC2, MT-CO2, MT-CO1

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, ZIMMERMANN-LABAND SYNDROME 1, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PROPIONICACIDEMIA, PITUITARY ADENOMA, ACTH-SECRETING, METHYLMALONYL-COA EPIMERASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PEPCK DEFICIENCY, MITOCHONDRIAL, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, OPSISMODYSPLASIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, ?INFANTILE LIVER FAILURE SYNDROME 1, LACTASE DEFICIENCY, CONGENITAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE I, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, VLCAD DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BIOTINIDASE DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MALONYL-COA DECARBOXYLASE DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, CONGENITAL DISORDER OF DEGLYCOSYLATION, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, ISOVALERIC ACIDEMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, 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, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

ISCU, LCT, UCP1, NGLY1, BCKDHB, ACADS, TBX19, AGRP, DGUOK, MUC1, YARS2, ATP6V1B2, PCCB, PPARG, ECHS1, PCK2, MCCC2, TK2, BAAT, HADH, FH, NDUFB11, MLYCD, OGDH, DLD, AUH, UMPS, LIPT1, GNAI2, ETFDH, NR3C2, PRSS1, HMGCS2, FARS2, QDPR, CA5A, LYRM7, ALDH6A1, EDA, BTD, AKT2, AGXT, HADHA, BCKDHA, EARS2, SUCLA2, NKX2-1, MCEE, TNFRSF1A, SDC3, ACADVL, NDUFA10, LRP6, MC4R, LARS, GLB1, ACAT1, NDUFS3, MMAB, HSD17B10, HLA-DRB1, IARS2, ITPR3, ALDH2, NARS2, DBH, HMGCL, INPPL1, NDUFS1, CFTR, MUT, ETFA, SLC25A4, DBT, CSNK1D, MCCC1, NDUFA9, ACADSB, MMAA, ACADM, POMC, LYRM4, OTC, SDHAF1, UQCC2, NGF, NR3C1, PDHA1, PDHX, ETFB, UQCRC2, MT-CO2, PCCA, TANGO2, CPS1, SUCLG1, BDNF, PDP1, DLAT, TUFM, GHRL, SARS2, IVD, MTHFD1, C10orf2, PC, RYR1, NDUFS2

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, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE

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

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 III DEFICIENCY, NUCLEAR TYPE 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5

UQCRC2, BCS1L, UQCRB

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ZIMMERMANN-LABAND SYNDROME 1, HMG-COA LYASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, VLCAD DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IIC, BARTH SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE II, TRIFUNCTIONAL PROTEIN DEFICIENCY, LYSINURIC PROTEIN INTOLERANCE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MICROCEPHALY, AMISH TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, GLUCOCORTICOID DEFICIENCY 4, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

UCP1, NDUFS8, BCKDHB, ADRB2, CPT2, NDUFA11, MUC1, CYP11B2, NDUFA1, ADRB3, ACAT1, TK2, HADH, COX6B1, NDUFB11, MT-ATP6, MPV17, MT-CO3, WNK1, DLD, COX8A, COQ2, HSD17B10, CPS1, ETFDH, HMGCS2, NDUFAF3, NDUFAF6, POMC, SFXN4, MT-ND6, AKT2, NNT, MSMO1, HADHA, CPT1A, SUCLA2, MPC1, TNFRSF1A, ATP6V1B2, NDUFA9, SLC7A7, ACADVL, CYP24A1, NDUFA10, MT-CO1, NDUFB3, SCO2, NDUFA12, BCS1L, SDHD, SLC25A19, TAZ, NDUFS7, TMEM70, NDUFA2, HMGCL, SLC25A26, LRPPRC, COQ9, NDUFS6, SLC25A4, MT-ND1, COX15, MCCC1, OGDH, ECHS1, KCNH1, COX10, MT-ND3, NDUFV1, OTC, NDUFS3, UQCC2, NDUFS1, MT-ND4, SDHA, UCP3, HADHB, MT-CO2, SCO1, NDUFS4, NDUFV2, UQCRC2, NDUFB9, SUCLG1, MT-ND5, TUFM, POLG, CYC1, SLC25A20, C10orf2, UQCRB, PC, NDUFS2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ZIMMERMANN-LABAND SYNDROME 1, HMG-COA LYASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, VLCAD DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IIC, BARTH SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE II, TRIFUNCTIONAL PROTEIN DEFICIENCY, LYSINURIC PROTEIN INTOLERANCE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MICROCEPHALY, AMISH TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, GLUCOCORTICOID DEFICIENCY 4, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

UCP1, NDUFS8, BCKDHB, CPT2, NDUFA11, MUC1, CYP11B2, NDUFA1, ACAT1, TK2, HADH, COX6B1, NDUFB11, MT-ATP6, MPV17, MT-CO3, WNK1, DLD, COX8A, COQ2, HSD17B10, CPS1, ETFDH, HMGCS2, NDUFAF3, NDUFAF6, SFXN4, MT-ND6, AKT2, NNT, MSMO1, HADHA, CPT1A, SUCLA2, MPC1, TNFRSF1A, ATP6V1B2, NDUFA9, SLC7A7, ACADVL, CYP24A1, NDUFA10, MT-CO1, NDUFB3, SCO2, NDUFA12, BCS1L, SDHD, SLC25A19, TAZ, NDUFS7, TMEM70, NDUFA2, HMGCL, NDUFS1, COQ9, NDUFS6, SLC25A4, MT-ND1, COX15, MCCC1, OGDH, ECHS1, POMC, COX10, MT-ND3, NDUFV1, OTC, NDUFS3, UQCC2, SLC25A26, MT-ND4, SDHA, UCP3, HADHB, MT-CO2, SCO1, NDUFS4, NDUFV2, UQCRC2, NDUFB9, SUCLG1, MT-ND5, TUFM, POLG, CYC1, SLC25A20, C10orf2, UQCRB, PC, NDUFS2

CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ZIMMERMANN-LABAND SYNDROME 1, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, PITUITARY ADENOMA, ACTH-SECRETING, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, GLYCOGEN STORAGE DISEASE II

CTNS, TUFM, HLA-DRB1, PSMB8, ATP6V1B2, AGL, NGF, ECE1, VPS33B, POMC, ENPP1, FOXP3, GTPBP3, GAA, GNAS, TMEM165, SLC29A3

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 IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, GLUCOCORTICOID DEFICIENCY 4

NNT, COX15, MT-CO2, SURF1, UQCRB

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, BARTTER SYNDROME, TYPE 2, BARTH SYNDROME, LYSINURIC PROTEIN INTOLERANCE, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, PYRUVATE CARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MEDULLARY CYSTIC KIDNEY DISEASE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PROPIONICACIDEMIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITUITARY ADENOMA, ACTH-SECRETING, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, INSOMNIA, FATAL FAMILIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), HMG-COA LYASE DEFICIENCY, VLCAD DEFICIENCY, PERIODIC FEVER, FAMILIAL, LIPOYLTRANSFERASE 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HYPERCHLORHIDROSIS, ISOLATED, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CITRULLINEMIA, OPSISMODYSPLASIA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, ?INFANTILE LIVER FAILURE SYNDROME 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, LIPOID ADRENAL HYPERPLASIA, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLYCEROL KINASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, BIOTINIDASE DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MALONYL-COA DECARBOXYLASE DEFICIENCY, SENGERS SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, CPT DEFICIENCY, HEPATIC, TYPE IA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, HYPEROXALURIA, PRIMARY, TYPE 1, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MICROCEPHALY, AMISH TYPE, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, ISOVALERIC ACIDEMIA, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

ISCU, MPV17, FARS2, COQ9, LARS, BCKDHB, ACADS, ALDH6A1, NDUFA11, CUL3, DGUOK, MUC1, CYP11B2, NDUFA1, PCCB, PPARG, PCK2, MCCC2, TK2, HADH, COX6B1, FH, NDUFB11, MMAB, MLYCD, MT-CO3, COX20, NDUFV2, WNK1, ACADSB, DLD, COX8A, COQ2, CPT2, AUH, UMPS, LIPT1, CPS1, GNAI2, ETFDH, HMGCS2, ACADM, NDUFAF3, NDUFAF6, NME1, MRPS22, SLC25A19, CA5A, KCNJ1, LYRM7, MT-ND6, BTD, AKT2, NNT, MSMO1, HADHA, CPT1A, BCKDHA, GK, NDUFAF4, IKBKAP, EARS2, ASS1, SUCLA2, GNAS, MPC1, DNM1L, MCEE, TNFRSF1A, TMEM173, IARS2, NDUFA9, SLC7A7, FBXL4, ACADVL, CYP24A1, NDUFA10, NDUFS7, MT-CO1, MT-ATP6, YARS2, ACAT1, NDUFB3, ETFA, NDUFS3, SCO2, NDUFA12, BCS1L, SDHD, SFXN4, SUCLG1, MRPS16, TAZ, ITPR3, ALDH2, NARS2, TMEM70, NDUFA2, HMGCL, NR3C1, INPPL1, HADHB, SLC25A26, HSD17B10, LRPPRC, MUT, UQCRC2, NDUFS6, SLC25A4, MT-ND1, COX15, DBT, CSNK1D, CA12, MCCC1, SARS2, OGDH, MMAA, ECHS1, POMC, COX10, LYRM4, MT-ND3, CYC1, NDUFV1, OTC, SDHAF1, NDUFAF1, UQCC2, NDUFS1, COX14, MT-ND4, PRNP, AGK, SDHA, PDHX, UCP3, PDHA1, ETFB, MT-CO2, SCO1, NDUFS4, PCCA, LIPE, NDUFB9, AGXT, STAR, NDUFS8, MT-ND5, PDP1, DLAT, TUFM, POLG, NDUFAF5, UCP1, IVD, SLC25A20, NDUFS2, C10orf2, UQCRB, PC, RYR1, SURF1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY

UQCRC2, BCS1L, MT-CO2, UQCRB, MT-CO3, MT-CO1

OROTIC ACIDURIA, NEPHRONOPHTHISIS 1, JUVENILE, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, LIDDLE SYNDROME, BARTTER SYNDROME, TYPE 2, CPT DEFICIENCY, HEPATIC, TYPE IA, PERIODIC FEVER, FAMILIAL, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, SENIOR-LOKEN SYNDROME-1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, BARTTER SYNDROME, TYPE 3, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ZIMMERMANN-LABAND SYNDROME 1, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, BARTTER SYNDROME, TYPE 4B, DIGENIC, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

NGF, ADRB2, CLCNKA, CHRNG, SCNN1A, SCNN1B, NPHP1, CFTR, CACNA1D, KCNJ5, CHRNA1, CSNK1D, KCNJ1, CPT1A, CACNA1S, CLCNKB, SCNN1G, CACNA1A, TNFRSF1A, BSND, AQP2, ITPR3, KCNH1, UMPS, CHRND, ABCC8

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, 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 III DEFICIENCY, NUCLEAR TYPE 6, GLUCOCORTICOID DEFICIENCY 4

NDUFS1, CYC1, MT-ND6, COX15, MT-CO2, UQCRB, NNT, SURF1