METABOLIC FEATURES

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, 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, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

COX6B1, SURF1, LRPPRC, CYC1, SCO1, MT-CO2, COX14, PRKAG2, TACO1, SCO2, AKT2, COX8A, MT-CO3, COX20, RRM2B, MT-CO1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIC, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, GLUCOCORTICOID DEFICIENCY 4, 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, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), 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 DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), 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, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

NDUFS3, SDHD, SUCLG1, NDUFB3, NDUFS8, UCP1, NDUFAF3, NDUFAF6, NDUFA12, MT-ATP6, MT-ND6, MT-ND4, NDUFA11, SURF1, SDHA, PDHA1, NDUFAF2, NDUFA9, PDHX, UCP3, NDUFA1, COX20, NDUFS7, PPARG, HMGCS2, MT-CO2, SCO1, WNK1, NDUFS4, NNT, UQCRC2, NDUFV2, ETFA, NDUFB9, NDUFS1, NDUFAF4, LRPPRC, COX6B1, PDP1, FH, MT-ND1, TACO1, SCO2, DLAT, NDUFS2, MT-CO3, MT-ND5, ETFDH, NDUFA2, NDUFS6, OGDH, NDUFAF5, DLD, COX8A, NDUFV1, MPC1, COX14, ETFB, SUCLA2, NDUFB11, UQCRB, NDUFA10, SLC16A1, MT-ND3, CYC1, MT-CO1

3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA

MCCC1, HLCS, PCCB, PC, MCCC2, PCCA

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], RENAL GLUCOSURIA, PROPIONICACIDEMIA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, GLYCOGEN STORAGE DISEASE VI, BARTTER SYNDROME, TYPE 2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, BARTH SYNDROME, DIARRHEA 6, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, 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, PYRUVATE CARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MEDULLARY CYSTIC KIDNEY DISEASE 1, 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), ARGININOSUCCINIC ACIDURIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, GLUCOCORTICOID DEFICIENCY 4, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, HMG-COA LYASE DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PEPCK DEFICIENCY, MITOCHONDRIAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, HYPERCHLORHIDROSIS, ISOLATED, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, HAWKINSINURIA, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, CINCA SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MUCKLE-WELLS SYNDROME, FANCONI-BICKEL SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, GLUCOSE/GALACTOSE MALABSORPTION, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, 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, CITRULLINEMIA, OPSISMODYSPLASIA, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ARGININEMIA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 1, JUVENILE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LACTASE DEFICIENCY, CONGENITAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, LOWE SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, GLYCOGEN STORAGE DISEASE II, SENIOR-LOKEN SYNDROME-1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE IA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, LIPOID ADRENAL HYPERPLASIA, GLYCOGEN STORAGE DISEASE 0, LIVER, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, GLYCEROL KINASE DEFICIENCY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AR, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, VLCAD DEFICIENCY, 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, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {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, RENAL TUBULAR ACIDOSIS, DISTAL, AD, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, COENZYME Q10 DEFICIENCY, PRIMARY, 1, APPARENT MINERALOCORTICOID EXCESS, BIOTINIDASE DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, TYROSINEMIA, TYPE I, 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}, CPT DEFICIENCY, HEPATIC, TYPE IA, ISOVALERIC ACIDEMIA, 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, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, 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, 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUTATHIONE SYNTHETASE DEFICIENCY, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

ISCU, AGK, HLCS, SLC5A2, LCT, COQ9, LARS, ADRB2, COX14, CPT2, ACADS, ALDH6A1, NDUFA11, GNAS, TBX19, G6PC, AGRP, DGUOK, MUC1, CYP11B2, NDUFA1, ENPP1, PCCB, GCH1, PPARG, MTHFR, PNPO, PCK2, MCCC2, SLC2A2, TK2, BAAT, OCRL, HADH, PRPS1, LIPE, MCCC1, FH, FBP1, MMAB, MLYCD, MT-CO3, COX20, PCCA, WNK1, CYP2C19, FAH, ACADSB, GYS2, DLD, RRM2B, HSD17B10, AUH, PRKAG2, CPS1, GNAI2, LRP6, ETFDH, COX8A, NUBPL, SDHD, DDC, ECHS1, ALDOB, NDUFAF3, NDUFAF6, QDPR, NME1, NDUFAF4, PYGL, THRA, COX6B1, KCNJ1, GDNF, CACNA1D, UMPS, MT-ND6, BTD, NNT, AGXT, ALDH2, HADHA, NR0B1, BCKDHA, GK, PSMB8, EARS2, MSMO1, PER2, PNPLA8, MPC1, SUCLA2, NDUFS2, SLC4A1, CACNA1A, MT-ND3, TNFRSF1A, GUCY2C, CYP21A2, NKX2-1, CYP2D6, CYP24A1, ADRB3, HMGCS2, NDUFA10, SLC26A3, ABCC8, ARG1, GSS, MC4R, TUFM, MT-ATP6, RET, GLB1, AGL, ACAT1, NDUFB3, ETFA, SCO2, STX11, NDUFA12, HNF4A, CPT1A, SLC22A5, MCEE, NDUFAF2, MC2R, TAZ, ITPR3, PCK1, BCS1L, DBH, NDUFA2, HMGCL, FOXP3, MMACHC, INPPL1, PRSS1, NDUFS1, HSD11B2, LRPPRC, MUT, UQCRC2, NDUFS6, SLC25A4, MT-ND1, COX15, DBT, CSNK1D, CA12, BCKDHB, SDC3, OGDH, ASS1, MMAA, ACADM, POMC, COX10, GAA, PPARGC1B, LYRM4, PAH, CYC1, NDUFV1, OTC, NDUFS3, SUCLG1, NGF, COQ2, PTS, NDUFV2, HADHB, MTHFD1, MT-ND4, ASL, NPHP1, PDHA1, SDHA, TYMP, NDUFA9, PDHX, NR3C1, CFTR, MTR, HPD, ETFB, MT-CO2, SCO1, NDUFS4, TPK1, DST, NDUFB9, SIM1, SLC16A1, SLC5A1, STAR, NDUFS8, CA5A, PUS1, CACNA1S, MT-ND5, TACO1, PDP1, DLAT, UCP3, PC, GHRL, ACADVL, UCP1, NDUFAF5, IVD, NR0B2, NDUFB11, SLC25A20, NLRP3, APOA5, MT-CO1, C10orf2, UQCRB, CYP17A1, MTRR, NDUFS7, RYR1, SURF1

{HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, VLCAD DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, CPT DEFICIENCY, HEPATIC, TYPE II, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, METHYLMALONIC ACIDURIA CBLB TYPE, GLYCEROL KINASE DEFICIENCY, 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}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ALPHA-METHYLACETOACETIC ACIDURIA, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, METHYLMALONYL-COA EPIMERASE DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

ACADM, CPT2, ACADS, ACADVL, NME1, PPARG, THRA, CFTR, PCCB, ACAT1, UMPS, HNF4A, HMGCL, ECHS1, PCCA, HADHA, UQCRC2, PPARGC1B, GK, HADH, CPS1, MUT, SLC25A20, CPT1A, MCEE, MMAA, NR0B2, NR3C1, PRKAG2, APOA5, INPPL1, HADHB, HMGCS2

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, 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}, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, BIOTINIDASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

TUFM, HLCS, MMAB, TPK1, MTR, ENPP1, PCCB, MTHFR, BTD, PCCA, MCCC2, INPPL1, NDUFS1, MUT, MMACHC, MTRR, PNPO, MCCC1, MMAA, MTHFD1, C10orf2, PC, PRSS1, HMGCS2

TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, METHYLMALONYL-COA EPIMERASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB 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, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE

MCEE, MMAA, PCCB, HADH, MUT, ACADM, ETFA, ECHS1, ACADVL, ACADS, UQCRC2, PCCA, HADHA, HADHB

?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, 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}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, 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, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

MT-ATP6, SDHD, NDUFB3, UCP1, NDUFAF3, NDUFAF6, NDUFA12, MT-ND6, MT-ND4, NDUFA11, SURF1, SDHA, NDUFAF2, NDUFA9, UCP3, NDUFA1, ETFB, UQCRC2, MT-CO2, SCO1, WNK1, NDUFS4, NDUFV2, ETFA, NDUFB9, NDUFS1, NDUFAF4, LRPPRC, COX6B1, NDUFS6, MT-ND1, TACO1, SCO2, NDUFS8, NDUFS2, MT-CO3, COX20, ETFDH, NDUFA2, NDUFV1, NDUFAF5, COX8A, MT-ND5, COX14, NDUFB11, UQCRB, NDUFA10, MT-ND3, NDUFS7, NDUFS3, CYC1, MT-CO1

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, TRIFUNCTIONAL PROTEIN DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

HADHA, HADHB, ECHS1, HADH, ACADS

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, TRIFUNCTIONAL PROTEIN DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

HADHA, HADHB, ECHS1, HADH

TRIFUNCTIONAL PROTEIN DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE 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, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY

HADH, ACADM, HADHB, ECHS1, ACADVL, ACADS, HADHA, CPS1

3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, BIOTINIDASE DEFICIENCY

MCCC1, HLCS, PCCB, BTD, PC, MCCC2, PCCA

HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, 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}, GLUCOCORTICOID RESISTANCE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}

POMC, HLA-DRB1, PPARG, AKT2, NR3C1

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, PERIODIC FEVER, FAMILIAL, GLUCOCORTICOID RESISTANCE

HLA-DRB1, TNFRSF1A, NR3C1

?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, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, 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, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

NDUFS3, SDHD, NDUFB3, NDUFAF3, NDUFAF6, NDUFA12, MT-ND6, MT-ND4, NDUFA11, SURF1, SDHA, NDUFAF2, NDUFA9, NDUFA1, ETFB, UQCRC2, MT-CO2, SCO1, NDUFS4, NDUFV2, ETFA, NDUFB9, NDUFS1, NDUFAF4, LRPPRC, COX6B1, NDUFS6, MT-ND1, TACO1, SCO2, NDUFS8, NDUFS2, MT-CO3, COX20, ETFDH, NDUFA2, NDUFV1, NDUFAF5, COX8A, MT-ND5, COX14, NDUFB11, UQCRB, NDUFA10, MT-ND3, NDUFS7, CYC1, MT-CO1

MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, FUMARASE DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, PYRUVATE DEHYDROGENASE E2 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, GLUCOCORTICOID DEFICIENCY 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY

PDHX, OGDH, SLC16A1, DLD, SUCLG1, PDP1, SUCLA2, SDHD, MPC1, FH, DLAT, NNT, SDHA, PDHA1

{SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, PERIODIC FEVER, FAMILIAL, GLUCOCORTICOID RESISTANCE

HLA-DRB1, TNFRSF1A, NR3C1

MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, FUMARASE 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), GLUCOCORTICOID DEFICIENCY 4

OGDH, DLD, SUCLG1, FH, SUCLA2, SDHD, NNT, SDHA

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, 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}, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, OPSISMODYSPLASIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, BIOTINIDASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

TUFM, HLCS, MMAB, TPK1, MTR, ENPP1, PCCB, MTHFR, BTD, PCCA, MCCC2, INPPL1, NDUFS1, MUT, MMACHC, MTRR, PNPO, MCCC1, MMAA, MTHFD1, C10orf2, PC, PRSS1, HMGCS2

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 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}

POMC, HLA-DRB1, ACADM, TUFM, CSNK1D

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}, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, APPARENT MINERALOCORTICOID EXCESS

CYP11B2, CYP21A2, POMC, HSD11B2, CYP17A1, MSMO1

METHYLMALONYL-COA EPIMERASE DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, METHYLMALONIC ACIDURIA CBLB TYPE, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE

MUT, MMAA, PCCB, MCEE, PCCA

OPSISMODYSPLASIA, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, BIOTINIDASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

MCCC1, MTR, HLCS, MUT, PCCB, UQCRC2, MMAA, MTRR, BTD, MMAB, C10orf2, PC, MMACHC, MCCC2, PCCA, INPPL1

METHYLMALONIC ACIDURIA, MUT(0) TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA CBLB TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

MTR, MUT, PRSS1, MMAA, MMAB, C10orf2, MTRR, MMACHC

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, 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, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

COX6B1, SURF1, LRPPRC, CYC1, SCO1, MT-CO2, COX14, PRKAG2, TACO1, SCO2, AKT2, COX8A, MT-CO3, COX20, RRM2B, MT-CO1

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, TRIFUNCTIONAL PROTEIN DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

HADHA, HADHB, ACADM, ECHS1, HADH

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, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8

IARS2, YARS2, EARS2, FARS2, NARS2, SARS2, AARS2, CPS1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TYROSINEMIA, TYPE I, ?INFANTILE LIVER FAILURE SYNDROME 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, 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}, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, ALPHA-METHYLACETOACETIC ACIDURIA, HAWKINSINURIA, CITRULLINEMIA, ARGININOSUCCINIC ACIDURIA, 2-METHYLBUTYRYLGLYCINURIA, ISOVALERIC ACIDEMIA, ARGININEMIA, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

OTC, LARS, DDC, ACAT1, NGF, QDPR, ALDH6A1, ASL, MTR, HPD, DBT, ARG1, PPARG, MT-CO2, DBH, AGXT, MCCC2, CPS1, PSMB8, ASS1, BCKDHB, PAH, MCCC1, ACADSB, OGDH, DLD, CYC1, HSD17B10, AUH, BCKDHA, MTRR, IVD, FAH

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, TRIFUNCTIONAL PROTEIN DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

HADHA, HADHB, ACADM, ECHS1, HADH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ISOVALERIC ACIDEMIA, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, ALPHA-METHYLACETOACETIC ACIDURIA

MCCC1, ACADSB, DLD, MCCC2, IVD, ACAT1, BCKDHB, MT-CO2, AUH, HSD17B10, ALDH6A1, DBT, BCKDHA

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LACTASE DEFICIENCY, CONGENITAL, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, GLYCOGEN STORAGE DISEASE VI, GM1-GANGLIOSIDOSIS, TYPE I, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, 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}, FRUCTOSE INTOLERANCE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLYCOGEN STORAGE DISEASE 0, LIVER, PYRUVATE CARBOXYLASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 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, OPSISMODYSPLASIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, GLUTATHIONE SYNTHETASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, BIOTINIDASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

TUFM, NDUFS3, HLCS, LCT, ALDOB, MMAB, MTRR, QDPR, PYGL, MC2R, CYP11B2, GLB1, MTR, GSS, MT-CO2, BTD, PCCA, MCCC2, INPPL1, MUT, NR0B1, MMACHC, PC, MCCC1, MMAA, CYP21A2, POMC, CYP24A1, GYS2, C10orf2, CYP17A1, PAH, PCCB

METHYLMALONIC ACIDURIA, MUT(0) TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA CBLB TYPE, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

MTR, MUT, MMAA, MMAB, C10orf2, MTRR, MMACHC

3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, BIOTINIDASE DEFICIENCY

MCCC1, HLCS, PCCB, BTD, PC, MCCC2, PCCA