METABOLIC FEATURES

TRIFUNCTIONAL PROTEIN DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, CPT II DEFICIENCY, LETHAL NEONATAL, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ?FANCONI RENOTUBULAR SYNDROME 3, CPT DEFICIENCY, HEPATIC, TYPE IA, ALPHA-METHYLACETOACETIC ACIDURIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, CPT DEFICIENCY, HEPATIC, TYPE II

EHHADH, ACADM, ACADSB, HADH, ECHS1, CPT1A, ACAT1, ACADVL, CPT2, ACADS, TUFM, ALDH2, HADHA, HADHB

RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, PEPCK DEFICIENCY, MITOCHONDRIAL, HMG-COA SYNTHASE-2 DEFICIENCY, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIC, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, 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}, DIABETES INSIPIDUS, NEPHROGENIC, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, BARTTER SYNDROME, TYPE 3, GLUCOCORTICOID RESISTANCE, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ZIMMERMANN-LABAND SYNDROME 1, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, PSEUDOHYPOALDOSTERONISM, TYPE I, RENAL TUBULAR ACIDOSIS, DISTAL, AR, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, 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}, PITUITARY ADENOMA, ACTH-SECRETING, RENAL TUBULAR ACIDOSIS, DISTAL, AD, APPARENT MINERALOCORTICOID EXCESS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

NGF, SCNN1G, HSD17B10, SCNN1B, GNAS, CFTR, ATP6V1B2, GDNF, PCK1, SCNN1A, ATP1A2, FOXP3, BSND, HSD11B2, PCK2, KCNJ1, BDNF, ADRB2, AVPR2, SLC4A1, WNK1, SLC4A4, CLCNKB, NR3C1, GNAI2, NR3C2, AQP2, HMGCS2

?INFANTILE LIVER FAILURE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8

POLG, IARS2, EARS2, FARS2, MTFMT, LARS, SARS2, AARS2, YARS2, NARS2, CPS1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, OROTIC ACIDURIA, 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, ?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, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUTATHIONE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ?FANCONI RENOTUBULAR SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), {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}

EHHADH, TUFM, BAAT, RRM2B, MTR, ACADSB, ACADM, GSS, ECHS1, HSD17B10, ALDH6A1, UMPS, MT-CO2, MLYCD, CPS1, AGXT, ALDH2, HADHA, HADHB, NUBPL, PPARG

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, TYROSINEMIA, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ?INFANTILE LIVER FAILURE SYNDROME 1, HMG-COA LYASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, D-GLYCERIC ACIDURIA, HMG-COA SYNTHASE-2 DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, HAWKINSINURIA, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ATELEIOTIC DWARFISM, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, OROTIC ACIDURIA, 2-METHYLBUTYRYLGLYCINURIA, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, 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, FUMARASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, CITRULLINEMIA, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, OPSISMODYSPLASIA, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, ISOVALERIC ACIDEMIA, METHYLMALONYL-COA EPIMERASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BECKWITH-WIEDEMANN SYNDROME, ARGININEMIA, 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, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

OTC, TUFM, LARS, DDC, XRCC4, NGF, HSD17B10, ACADS, ALDH6A1, ASL, CUL3, THRA, MTR, HPD, DBT, PCCB, ACAT1, HMGCS2, MT-CO2, NSD1, DBH, HMGCL, ECHS1, AGXT, ALDH2, HADHA, EHHADH, INPPL1, HADH, CPS1, MUT, ASS1, FH, PC, SUCLA2, MCEE, BCKDHB, PCCA, MCCC1, ACADSB, OGDH, DLD, MCCC2, IVD, ACADM, QDPR, ETFB, AUH, CYC1, UMPS, LIPT1, GLYCTK, PAH, ARG1, HADHB, FAH, BCKDHA

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, CPT II DEFICIENCY, LETHAL NEONATAL, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), 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, 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}, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLUCOCORTICOID RESISTANCE, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, LYMPHOPROLIFERATIVE SYNDROME 2, 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, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, HAWKINSINURIA, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 1, BIOTINIDASE DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

LIAS, HLCS, MTFMT, PTS, QDPR, MTHFD1, GNAS, GCH1, MTR, HPD, ALDH2, PPARG, MTHFR, BTD, NNT, TPK1, CPT2, COX10, COQ2, EARS2, CD27, SUCLA2, HNF4A, COX15, MMAB, PNPO, CYP2C19, HSD17B10, NR3C1, ENPP1, PRKAG2, LIPT1, TUFM, MT-CO1

TRIFUNCTIONAL PROTEIN DEFICIENCY, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, HMG-COA SYNTHASE-2 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, ?FANCONI RENOTUBULAR SYNDROME 3, ALPHA-METHYLACETOACETIC ACIDURIA

HADH, ECHS1, HADHB, ACAT1, UMPS, ACADS, HMGCL, HADHA, EHHADH, HMGCS2

MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, PSEUDOHYPOALDOSTERONISM, TYPE I, APPARENT MINERALOCORTICOID EXCESS, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

KCNJ1, NGF, SCNN1G, ATP1A2, SCNN1A, HSD11B2, SCNN1B, NR3C2, WNK1

PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, D-GLYCERIC ACIDURIA, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, ALPHA-METHYLACETOACETIC ACIDURIA

MCEE, MUT, PCCB, ACAT1, PCCA, AGXT, GLYCTK

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, 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, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ALPHA-METHYLACETOACETIC ACIDURIA, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ISOVALERIC ACIDEMIA, METHYLMALONYL-COA EPIMERASE DEFICIENCY

ECHS1, HSD17B10, ACADS, ALDH6A1, PCCB, ACAT1, MT-CO2, HMGCL, PCCA, ALDH2, HADHA, BCKDHA, HADH, MUT, EHHADH, MCEE, DBT, MCCC1, OGDH, ACADSB, DLD, MCCC2, IVD, ACADM, BCKDHB, AUH, UMPS, CPS1, HADHB, HMGCS2

TRIFUNCTIONAL PROTEIN DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, CPT II DEFICIENCY, LETHAL NEONATAL, 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, ?FANCONI RENOTUBULAR SYNDROME 3, CPT DEFICIENCY, HEPATIC, TYPE IA, ALPHA-METHYLACETOACETIC ACIDURIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, CPT DEFICIENCY, HEPATIC, TYPE II

EHHADH, ACADM, ACADSB, HADH, ECHS1, CPT1A, ACAT1, ACADVL, CPT2, ACADS, HADHA, HADHB

MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, FUMARASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 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 DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), PYRUVATE DEHYDROGENASE E2 DEFICIENCY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY

SUCLG1, SDHD, OGDH, SDHA, DLD, PDHA1, PCK1, SUCLA2, FH, DLAT, PCK2, DBT, PC

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PERIODIC FEVER, FAMILIAL, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, GLUCOCORTICOID RESISTANCE, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CONGENITAL DISORDER OF DEGLYCOSYLATION, 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}, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), VENTRICULAR TACHYCARDIA, IDIOPATHIC, 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}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITUITARY ADENOMA, ACTH-SECRETING, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INSOMNIA, FATAL FAMILIAL, {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

UCP1, NME1, SDHA, NDUFB3, NDUFS3, NGLY1, SDHD, MT-CO1, HSD17B10, ADRB2, BCS1L, MT-ND4, NDUFA11, PRNP, GNAS, MT-ND5, NGF, NDUFA1, NDUFA12, RYR1, PPARG, MT-CO2, POMC, NDUFS4, NDUFV2, LIPE, UQCRB, AIP, NDUFS1, NDUFA10, CFTR, COX6B1, NDUFB9, NDUFS6, NDUFA2, CACNA1S, BDNF, UQCRC2, MT-ATP6, NDUFS8, AVPR2, NDUFS2, MT-CO3, TUFM, WNK1, SLC25A4, NDUFA9, COX8A, ITPR3, MT-ND1, NR3C1, MT-ND6, TNFRSF1A, CYC1, NDUFB11, NDUFV1, GNAI2, MT-ND3, NDUFS7, CACNA1D, MC4R

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, 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, HMG-COA SYNTHASE-2 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, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, PERIODIC FEVER, FAMILIAL, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLUCOCORTICOID RESISTANCE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, FANCONI-BICKEL SYNDROME, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, 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}, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MODY, TYPE III, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, HEPATIC ADENOMA, SOMATIC, LIPOID ADRENAL HYPERPLASIA, OPSISMODYSPLASIA, 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}, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

LARS, AGL, NGF, NDUFB3, NDUFS3, MT-CO1, NDUFA12, INPPL1, HNF4A, SDHD, NDUFA11, SDHA, HLA-DRB1, NDUFA1, ADRB3, CACNA1D, PPARG, HMGCS2, BCS1L, POMC, NEUROG3, AKT2, MT-CO2, NDUFV2, STAR, NDUFB9, NDUFA2, PAX4, NDUFS4, COX6B1, VPS33B, NDUFB11, UQCRC2, NDUFS6, NDUFS8, SLC2A2, NDUFS2, MT-CO3, CACNA1A, ABCC8, GHRL, HNF1A, NDUFA9, COX8A, NR0B2, NR3C1, TNFRSF1A, PRKAG2, UQCRB, NDUFA10, MT-ND3, NDUFS7, NDUFS1, CYC1, NDUFV1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, OPSISMODYSPLASIA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, 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}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, GLYCEROL KINASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, CPT II DEFICIENCY, LETHAL NEONATAL, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, [GLYCEROL QUANTITATIVE TRAIT LOCUS], HMG-COA SYNTHASE-2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, PEPCK DEFICIENCY, MITOCHONDRIAL, ?FANCONI RENOTUBULAR SYNDROME 3, CPT DEFICIENCY, HEPATIC, TYPE IA, ALPHA-METHYLACETOACETIC ACIDURIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, CPT DEFICIENCY, HEPATIC, TYPE II

EHHADH, AQP7, CFTR, OGDH, UCP1, ACADM, CPT1A, ACAT1, GK, HNF4A, CPT2, APOA5, HMGCS2, MT-CO2, NR3C1, PCK2, PCK1, INPPL1, PPARG

TRIFUNCTIONAL PROTEIN DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, PROPIONICACIDEMIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM 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, METHYLMALONYL-COA EPIMERASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ?FANCONI RENOTUBULAR SYNDROME 3, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)

MCEE, TUFM, PCCB, EHHADH, MUT, ECHS1, HADHB, ACAT1, SUCLA2, ACADM, ALDH6A1, MLYCD, PCCA, HADHA, SUCLG1

?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}, ?INFANTILE LIVER FAILURE SYNDROME 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, HMG-COA SYNTHASE-2 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, 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, PERIODIC FEVER, FAMILIAL, LIPOID ADRENAL HYPERPLASIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

LARS, NDUFB3, NDUFS3, MT-CO1, NDUFA12, BCS1L, SDHD, NDUFA11, SDHA, NDUFA1, NDUFS7, PPARG, HMGCS2, MT-CO2, TNFRSF1A, AKT2, NDUFV2, STAR, NDUFB9, NDUFS1, NDUFS4, COX6B1, NDUFS6, NDUFB11, UQCRC2, NDUFS8, NDUFS2, MT-CO3, NDUFA2, NDUFA9, COX8A, PRKAG2, UQCRB, NDUFA10, CYC1, NDUFV1

TRIFUNCTIONAL PROTEIN DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?FANCONI RENOTUBULAR SYNDROME 3, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY

EHHADH, ECHS1, HADHB, ACADM, ALDH6A1, MLYCD, TUFM, HADHA, ALDH2, CPS1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], PROPIONICACIDEMIA, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), BARTH SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFANTILE LIVER FAILURE SYNDROME 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X 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, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, 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, 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, GLYCOGEN STORAGE DISEASE VI, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PYRUVATE CARBOXYLASE DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, 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, ARGININEMIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEPHRONOPHTHISIS 1, JUVENILE, 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, 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, GLYCOGEN STORAGE DISEASE II, SENIOR-LOKEN SYNDROME-1, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE IA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HAWKINSINURIA, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?FANCONI RENOTUBULAR SYNDROME 3, GLYCEROL KINASE DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, SENGERS SYNDROME, 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, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, COENZYME Q10 DEFICIENCY, PRIMARY, 1, BIOTINIDASE DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, D-GLYCERIC ACIDURIA, HMG-COA SYNTHASE-2 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, 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}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, HYPEROXALURIA, PRIMARY, TYPE 1, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, 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), 2-METHYLBUTYRYLGLYCINURIA, 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, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}

AGK, HLCS, LCT, GLYCTK, COQ9, LARS, BCKDHB, ACADS, ALDH6A1, NDUFA11, GNAS, MT-CO3, DGUOK, MUC1, CYP11B2, ATP6V1B2, ENPP1, GSS, PPARG, MTHFR, WNK1, ALG11, PCK2, MCCC2, TK2, BAAT, OCRL, HADH, PRPS1, COX6B1, FH, FBP1, SCO2, MLYCD, G6PC, PCCA, PNPO, CYP2C19, FAH, ACADSB, DLD, RRM2B, CPT2, AUH, UMPS, LIPT1, CPS1, GNAI2, MSMO1, COX8A, NUBPL, PCCB, SDHD, DDC, ECHS1, ALDOB, QDPR, NME1, PYGL, GCH1, RYR1, PRKAG2, MT-ND6, BTD, NNT, AGXT, ALDH2, HADHA, CD27, BCKDHA, GK, EARS2, NR0B1, SUCLA2, MCEE, MT-ND3, TNFRSF1A, NDUFA1, NDUFA9, CYP21A2, COX14, CYP24A1, HMGCS2, NDUFA10, SLC26A3, NDUFS7, PCK1, MT-CO1, MT-ATP6, GLB1, AGL, ACAT1, NDUFB3, ETFA, NDUFS3, MMAB, NDUFA12, HNF4A, CPT1A, SUCLG1, TAZ, ARG1, NARS2, BCS1L, DBH, NDUFA2, HMGCL, NR3C1, INPPL1, NDUFS1, HSD17B10, MUT, TANGO2, POLG, NDUFS6, MT-ND1, COX15, DBT, MCCC1, SDC3, OGDH, ASS1, ACADM, POMC, COX10, GAA, LYRM4, PAH, CYC1, NDUFV1, OTC, LIAS, NGF, COQ2, PTS, NDUFV2, ACADVL, MT-ND4, ASL, NPHP1, PDHA1, SDHA, TYMP, PDHX, MTR, HPD, ETFB, MT-CO2, NDUFS4, TPK1, UQCRC2, NDUFB9, SIM1, EHHADH, NDUFS8, MT-ND5, DLAT, TUFM, GHRL, DOLK, IVD, NR0B2, NDUFB11, MTHFD1, NDUFS2, C10orf2, UQCRB, CYP17A1, PC, HADHB, SURF1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], PROPIONICACIDEMIA, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, GLYCOGEN STORAGE DISEASE VI, BARTH SYNDROME, DIARRHEA 6, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFANTILE LIVER FAILURE SYNDROME 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, 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, PYRUVATE CARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), MEDULLARY CYSTIC KIDNEY DISEASE 1, KABUKI SYNDROME 2, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, 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, 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, VLCAD DEFICIENCY, BECKWITH-WIEDEMANN SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPERCHLORHIDROSIS, ISOLATED, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, 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, ARGININEMIA, {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, 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, 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, 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, HAWKINSINURIA, GLYCOGEN STORAGE DISEASE 0, LIVER, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?FANCONI RENOTUBULAR SYNDROME 3, GLYCEROL KINASE DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AR, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, 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, METHYLMALONIC ACIDURIA, MUT(0) TYPE, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, 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}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, DIABETES INSIPIDUS, NEPHROGENIC, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, 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), SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, 2-METHYLBUTYRYLGLYCINURIA, 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, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

AGK, HLCS, LCT, COQ9, LARS, ADRB2, CPT2, ACADS, ALDH6A1, NDUFA11, CUL3, G6PC, DGUOK, MUC1, CYP11B2, ATP6V1B2, ENPP1, GSS, GCH1, PPARG, MTHFR, WNK1, ALG11, PCK2, MCCC2, TK2, BAAT, OCRL, HADH, PRPS1, COX6B1, MCCC1, FH, FBP1, SCO2, MLYCD, MT-CO3, PCCA, PNPO, CYP2C19, ACADSB, GYS2, DLD, RRM2B, HSD17B10, AUH, UMPS, LIPT1, CPS1, GNAI2, MSMO1, COX8A, NUBPL, SDHD, DDC, ECHS1, KDM6A, ALDOB, QDPR, NME1, PYGL, GNAS, THRA, RYR1, PRKAG2, MT-ND6, NSD1, ATP1A2, BTD, AKT2, NNT, AGXT, ALDH2, HADHA, NR0B1, BCKDHA, GK, EARS2, CD27, SUCLA2, NDUFS2, SLC4A1, PAH, TNFRSF1A, NDUFA1, GUCY2C, CYP21A2, CYP2D6, CYP24A1, HMGCS2, NDUFA10, SLC26A3, ARG1, PCCB, MT-CO1, MT-ATP6, GLB1, AGL, ACAT1, NDUFB3, ETFA, NDUFS3, MMAB, NDUFA12, HNF4A, CPT1A, MCEE, SUCLG1, NDUFS7, TAZ, PCK1, NARS2, BCS1L, DBH, NDUFA2, HMGCL, FOXP3, INPPL1, NDUFS1, HSD11B2, CFTR, MUT, TANGO2, POLG, NDUFS6, MT-ND1, COX15, DBT, CA12, BCKDHB, SDC3, OGDH, ASS1, ACADM, AQP2, XRCC4, POMC, GLYCTK, GAA, LIPE, LYRM4, MT-ND3, CYC1, NDUFV1, OTC, LIAS, NGF, MTFMT, COQ2, PTS, NDUFV2, COX14, MT-ND4, ASL, NPHP1, PDHA1, SDHA, TYMP, NDUFA9, PDHX, NR3C1, MTR, HPD, ETFB, MT-CO2, NDUFS4, TPK1, UQCRC2, NDUFB9, SIM1, EHHADH, NDUFS8, CA5A, MT-ND5, DLAT, TUFM, GHRL, ACADVL, DOLK, IVD, NR0B2, NDUFB11, MTHFD1, FAH, C10orf2, UQCRB, CYP17A1, PC, COX10, HADHB, SURF1

?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, ZIMMERMANN-LABAND SYNDROME 1, 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 5, 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, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

NDUFS3, SDHD, NDUFB3, MT-ATP6, MT-CO1, NDUFA12, MT-ND6, MT-ND4, NDUFA11, SDHA, NDUFA1, NDUFS7, MT-CO2, ATP1A2, NDUFS4, NDUFV2, UQCRC2, NDUFB9, NDUFS1, COX6B1, NDUFS6, MT-ND5, COX15, SCO2, NDUFS8, NDUFS2, MT-CO3, NDUFA2, ATP6V1B2, NDUFA9, COX8A, MT-ND1, COX14, NDUFB11, UQCRB, NDUFA10, MT-ND3, COX10, CYC1, NDUFV1

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], PROPIONICACIDEMIA, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), BARTH SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFANTILE LIVER FAILURE SYNDROME 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, GLUCOCORTICOID RESISTANCE, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X 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, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, 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, 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, GLYCOGEN STORAGE DISEASE VI, 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, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, PYRUVATE CARBOXYLASE DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, 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, ARGININEMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, NEPHRONOPHTHISIS 1, JUVENILE, 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, 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, GLYCOGEN STORAGE DISEASE II, SENIOR-LOKEN SYNDROME-1, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE IA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HAWKINSINURIA, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?FANCONI RENOTUBULAR SYNDROME 3, GLYCEROL KINASE DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, VLCAD DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, SENGERS SYNDROME, 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, COENZYME Q10 DEFICIENCY, PRIMARY, 1, BIOTINIDASE DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, D-GLYCERIC ACIDURIA, HMG-COA SYNTHASE-2 DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, ISOVALERIC ACIDEMIA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, 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, GLUCOCORTICOID DEFICIENCY 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, 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), METHYLMALONIC ACIDURIA, MUT(0) TYPE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, 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, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}

AGK, HLCS, LCT, GLYCTK, COQ9, LARS, BCKDHB, ACADS, ALDH6A1, NDUFA11, GNAS, MT-CO3, DGUOK, MUC1, CYP11B2, ATP6V1B2, ENPP1, GSS, PPARG, MTHFR, WNK1, ALG11, PCK2, MCCC2, TK2, BAAT, OCRL, HADH, PRPS1, COX6B1, FH, FBP1, SCO2, MLYCD, G6PC, PCCA, PNPO, CYP2C19, FAH, ACADSB, DLD, RRM2B, HSD17B10, AUH, UMPS, LIPT1, CPS1, GNAI2, MSMO1, COX8A, NUBPL, PCCB, DDC, ECHS1, ALDOB, QDPR, NME1, PYGL, GCH1, RYR1, PRKAG2, MT-ND6, BTD, NNT, AGXT, ALDH2, HADHA, CD27, BCKDHA, GK, EARS2, NR0B1, SUCLA2, MCEE, MT-ND3, TNFRSF1A, NDUFA1, NDUFA9, CYP21A2, COX14, CYP24A1, HMGCS2, NDUFA10, SLC26A3, NDUFS7, PCK1, MT-CO1, MT-ATP6, GLB1, AGL, ACAT1, NDUFB3, ETFA, NDUFS3, MMAB, NDUFA12, HNF4A, SDHD, SUCLG1, TAZ, ARG1, NARS2, BCS1L, DBH, NDUFA2, HMGCL, NR3C1, INPPL1, NDUFS1, MUT, TANGO2, POLG, NDUFS6, MT-ND1, COX15, DBT, MCCC1, SDC3, OGDH, ASS1, ACADM, POMC, COX10, GAA, LYRM4, PAH, CYC1, NDUFV1, OTC, LIAS, NGF, COQ2, PTS, NDUFV2, ACADVL, MT-ND4, ASL, NPHP1, PDHA1, SDHA, TYMP, PDHX, MTR, HPD, ETFB, MT-CO2, NDUFS4, TPK1, UQCRC2, NDUFB9, SIM1, EHHADH, NDUFS8, MT-ND5, DLAT, TUFM, GHRL, DOLK, IVD, NR0B2, NDUFB11, MTHFD1, NDUFS2, C10orf2, UQCRB, CYP17A1, PC, HADHB, SURF1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, ZIMMERMANN-LABAND SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, HYPERCHLORHIDROSIS, ISOLATED, 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 5, RENAL TUBULAR ACIDOSIS, DISTAL, AR, GLUCOCORTICOID RESISTANCE, 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, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

LARS, SDHD, NDUFB3, NDUFS3, SCO2, MT-CO1, NDUFA12, BCS1L, MT-ND4, NDUFA11, SDHA, SLC4A1, CA5A, NDUFA1, NDUFS7, UQCRC2, MT-CO2, ATP1A2, NDUFS4, COX14, NDUFV2, CA12, NDUFB9, NDUFS1, CPS1, COX6B1, NDUFS6, MT-ND5, COX15, MT-ATP6, NDUFS8, NDUFS2, MT-CO3, NDUFA2, ATP6V1B2, NDUFA9, COX8A, MT-ND1, NR3C1, MT-ND6, NDUFB11, UQCRB, NDUFA10, MT-ND3, COX10, CYC1, NDUFV1

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, OROTIC ACIDURIA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HMG-COA LYASE DEFICIENCY, LACTASE DEFICIENCY, CONGENITAL, PEPCK DEFICIENCY, MITOCHONDRIAL, D-GLYCERIC ACIDURIA, HMG-COA SYNTHASE-2 DEFICIENCY, LOWE SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, GLYCOGEN STORAGE DISEASE VI, GM1-GANGLIOSIDOSIS, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, PERIODIC FEVER, FAMILIAL, BARTH SYNDROME, GLYCOGEN STORAGE DISEASE II, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE IA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GLUCOCORTICOID RESISTANCE, GLYCOGEN STORAGE DISEASE 0, LIVER, HYPEROXALURIA, PRIMARY, TYPE 1, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, 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, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, FRUCTOSE-1,6-BISPHOSPHATASE 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, FUMARASE DEFICIENCY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), OPSISMODYSPLASIA, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, PROPIONICACIDEMIA, 2-METHYLBUTYRYLGLYCINURIA, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, METHYLMALONYL-COA EPIMERASE 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 6

PCCB, MLYCD, GLB1, SDHA, AGL, PPARG, LCT, PRPS1, ACADS, HNF4A, SDHD, PYGL, PDHA1, MCEE, SUCLG1, TAZ, ENPP1, PCK1, ACAT1, ALDH6A1, HMGCL, ECHS1, PCK2, ALDH2, HADHA, ETFA, INPPL1, HADHB, EHHADH, GAA, HADH, AGXT, MUT, ALDOB, TANGO2, FH, GNAS, SUCLA2, DLAT, G6PC, DBT, PCCA, TNFRSF1A, ACADSB, OGDH, GYS2, DLD, OCRL, ACADM, FBP1, NR3C1, UMPS, GLYCTK, GNAI2, PC, CYC1, HMGCS2

OROTIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), FUMARASE DEFICIENCY, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, 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, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, METHYLMALONYL-COA EPIMERASE DEFICIENCY

ECHS1, ALDOB, ACADS, ALDH6A1, SDHD, SDHA, PDHA1, HADHB, ACAT1, MTHFR, AGXT, HADHA, EHHADH, CPS1, MUT, PRPS1, SUCLG1, FH, FBP1, SUCLA2, DLAT, MCEE, DBT, ETFA, OGDH, DLD, ACADM, UMPS, PC

?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 I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

UCP1, SDHD, NDUFB3, NDUFS3, MT-ATP6, MT-CO1, NDUFA12, MT-ND4, NDUFA11, SDHA, NDUFA1, NDUFS7, PPARG, MT-CO2, NDUFS4, NDUFV2, NGF, NDUFB9, NDUFS1, COX6B1, NDUFS6, SLC25A4, NDUFB11, UQCRC2, NDUFS8, NDUFS2, MT-CO3, NDUFA2, NDUFA9, COX8A, BDNF, UQCRB, NDUFA10, TUFM, CYC1, NDUFV1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, PERIODIC FEVER, FAMILIAL, 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}, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X 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, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, PSEUDOHYPOALDOSTERONISM, TYPE IIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

NDUFS3, SDHD, NDUFB3, MT-ATP6, MT-CO1, NDUFA12, MT-ND4, NDUFA11, SDHA, NDUFA1, RYR1, UQCRC2, MT-CO2, CSNK1D, NDUFS4, NDUFV2, NGF, NDUFB9, NDUFS1, COX6B1, WNK1, NDUFS6, CACNA1S, MT-ND1, NDUFS8, NDUFS2, MT-CO3, NDUFA2, NDUFA9, COX8A, ITPR3, HSD17B10, TNFRSF1A, CYC1, NDUFB11, UQCRB, NDUFA10, NDUFS7, CACNA1D, NDUFV1

?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 I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, PITUITARY ADENOMA, ACTH-SECRETING, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), VENTRICULAR TACHYCARDIA, IDIOPATHIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6

NDUFS3, SDHD, NGF, MT-ATP6, MT-CO1, NDUFA12, MT-ND6, MT-ND4, NDUFA11, GNAS, SDHA, NDUFA1, NDUFS7, UQCRC2, MT-CO2, NDUFS4, NDUFV2, NDUFB3, NDUFB9, NDUFS1, GNAI2, COX6B1, SUCLA2, SLC25A4, MT-ND5, ADRB2, NDUFS8, NDUFS2, MT-CO3, NDUFA2, NDUFS6, NDUFA9, COX8A, MT-ND1, NDUFB11, UQCRB, NDUFA10, MT-ND3, CYC1, NDUFV1