METABOLIC FEATURES

Associated diseases: PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], AMELOGENESIS IMPERFECTA, TYPE IG (ENAMEL-RENAL SYNDROME), HYPOMAGNESEMIA 3, RENAL, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, RENAL GLUCOSURIA, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, DIABETES INSIPIDUS, NEPHROGENIC, TYROSINEMIA, TYPE I, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, GLYCOGEN STORAGE DISEASE VI, BARTTER SYNDROME, TYPE 2, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, BARTH SYNDROME, DIARRHEA 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, SENIOR-LOKEN SYNDROME 4, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, LACTASE DEFICIENCY, CONGENITAL, ?INFANTILE LIVER FAILURE SYNDROME 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, NATIVE AMERICAN MYOPATHY, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), TRICHOHEPATOENTERIC SYNDROME 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, FAMILIAL MEDITERRANEAN FEVER, AR, HEPATIC ADENOMA, SOMATIC, ARGININOSUCCINIC ACIDURIA, 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), KABUKI SYNDROME 2, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), NEPHRONOPHTHISIS 2, INFANTILE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, INSOMNIA, FATAL FAMILIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OROTIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HMG-COA LYASE DEFICIENCY, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, RAINE SYNDROME, ?LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5, PEPCK DEFICIENCY, MITOCHONDRIAL, COENZYME Q10 DEFICIENCY, PRIMARY, 4, NEPHRONOPHTHISIS 4, BECKWITH-WIEDEMANN SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, LYSINURIC PROTEIN INTOLERANCE, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC 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, CONGENITAL DISORDER OF DEGLYCOSYLATION, HYPERCHLORHIDROSIS, ISOLATED, METHYLMALONYL-COA EPIMERASE DEFICIENCY, GLUCOCORTICOID DEFICIENCY 4, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ?MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LIPOID ADRENAL HYPERPLASIA, ?MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3, PITUITARY DEPENDENT HYPERCORTISOLISM, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, CINCA SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MUCKLE-WELLS SYNDROME, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FANCONI-BICKEL SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, GLUCOCORTICOID DEFICIENCY 2, PSEUDOHYPOALDOSTERONISM, TYPE IID, GLUCOSE/GALACTOSE MALABSORPTION, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, FRUCTOSE INTOLERANCE, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, {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, ARTHROGRYPOSIS, DISTAL, TYPE 2A, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CITRULLINEMIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), OPSISMODYSPLASIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, LYMPHOPROLIFERATIVE SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, DIABETES MELLITUS, TRANSIENT NEONATAL, 1, {DIABETES MELLITUS, TRANSIENT NEONATAL}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, ARGININEMIA, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 1, JUVENILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, 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, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BARTTER SYNDROME, TYPE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17, FUMARASE DEFICIENCY, [GLYCEROL QUANTITATIVE TRAIT LOCUS], LOWE SYNDROME, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, NEPHRONOPHTHISIS 3, GM1-GANGLIOSIDOSIS, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, {DEAFNESS, MITOCHONDRIAL, MODIFIER OF}, 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, PROPIONICACIDEMIA, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, PSORIASIS 14, PUSTULAR, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, GLYCOGEN STORAGE DISEASE 0, LIVER, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, ?FANCONI RENOTUBULAR SYNDROME 3, INFANTILE LIVER FAILURE SYNDROME 2, GLYCEROL KINASE DEFICIENCY, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2}, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PITUITARY HORMONE DEFICIENCY, COMBINED, 2, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MODY, TYPE III, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 10, VLCAD DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, D-GLYCERIC ACIDURIA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, BARTTER SYNDROME, TYPE 4B, DIGENIC, MITOCHRONDRIAL MIOPATHY, LETHAL, INFANTILE; LIMM, 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}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, COENZYME Q10 DEFICIENCY, PRIMARY, 1, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, APPARENT MINERALOCORTICOID EXCESS, HYPERALDOSTERONISM, FAMILIAL, TYPE III, BIOTINIDASE DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, COLD-INDUCED SWEATING SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ZIMMERMANN-LABAND SYNDROME 1, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, SENGERS SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, CPT DEFICIENCY, HEPATIC, TYPE IA, SESAME SYNDROME, LIDDLE SYNDROME, 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, GLYCOGEN STORAGE DISEASE IA, DIABETES INSIPIDUS, NEPHROGENIC, FAMILIAL MEDITERRANEAN FEVER, AD, CPT II DEFICIENCY, LETHAL NEONATAL, BARTTER SYNDROME, TYPE 3, 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, GITELMAN SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ?MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9, MORBID OBESITY AND SPERMATOGENIC FAILURE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, NEPHRONOPHTHISIS 11, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, 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, LIVER FAILURE, TRANSIENT INFANTILE, HAWKINSINURIA, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, MICROCEPHALY, AMISH TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, RENAL TUBULAR ACIDOSIS, DISTAL, AR, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, 2-METHYLBUTYRYLGLYCINURIA, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, NETHERTON SYNDROME, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUTATHIONE SYNTHETASE DEFICIENCY, ECTODERMAL DYSPLASIA, 'PURE' HAIR-NAIL TYPE, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, 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, IMMUNODEFICIENCY 9, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14

Associated genes: NGLY1, CYP2C19, ACADS, CUL3, AGRP, ENPP1, DBT, GSS, GLYCTK, SPINK1, DST, APOPT1, FH, PLAGL1, AGK, G6PC, PNPO, OCRL, BCKDHB, LIPT1, ETFDH, CTRC, XRCC4, KDM6A, NDUFAF3, PAX4, GNAS, THRA, MT-ND6, BTD, CD27, KCNJ1, PER2, SUCLA2, NKX2-1, EDN3, NDUFA1, RYR1, CYP21A2, NDUFA10, ARG1, MT-CO1, AGL, MT-TE, PRPS1, LIAS, SCO2, NDUFA12, SCNN1B, MCEE, NDUFAF2, MRAP, IARS2, STAC3, NDUFS7, NARS2, CHRNA1, DBH, MMACHC, INPPL1, AIP, LRPPRC, TANGO2, TRMU, COX15, CSNK1D, EDAR, MT-TH, MMAA, ECHS1, PTPN22, NLRP12, SDHAF1, SERAC1, NPHP1, PDHX, HPD, HADHB, MT-CO2, NDUFS4, PCCA, CIDEC, STAR, CLCNKB, CTNS, GHRL, SARS2, NR0B1, IVD, ZFP57, FBP1, NR3C1, APOA5, GH1, PCK1, NDUFS2, ARMC5, MLYCD, CPT2, KCNJ18, DGUOK, KLHL3, ICR1, WNK1, PROP1, SLC2A2, BAAT, FOXRED1, HADH, NDUFB11, MT-ATP6, TRNT1, MT-CO3, PKHD1, TPK1, MEFV, DLD, USP8, PET100, UQCRB, AARS2, NR3C2, SLC4A4, DDC, ALDOB, ABCC6, CLCNKA, NDUFAF1, PYGL, TTC37, EHHADH, GTPBP3, GK, EARS2, ATPAF2, VPS33B, MTO1, GDNF, CACNA1A, SDC3, BDNF, BOLA3, LIPI, HMGCS2, SLC26A3, MC4R, STIM1, NDUFB3, MMAB, MT-TL1, TMEM70, CARTPT, SLC29A3, MRPS16, TAZ, ITPR3, KCNJ5, SPINK5, HMGCL, NPHP3, ASCL1, HSD11B2, MUT, COQ9, CLDN16, WNK4, BSND, CA12, PSMB8, PRSS1, FARS2, KCNH1, MT-ND3, NDUFV1, OTC, NBAS, UQCC2, MTFMT, SLC25A26, PTS, KCNJ10, NTRK1, TYMP, MTR, SCO1, ETFA, NDUFB9, MT-TQ, SLC5A2, NDUFS6, TMEM67, SLC25A20, NLRP3, SURF1, C10orf2, UCP1, C3AR1, LCT, ADRB2, ALDH6A1, TBX19, LHX4, PEX6, MUC1, CYP11B2, ATP6V1B2, ADRB3, ATP1A2, MTHFR, NPHP4, ALG11, PCK2, ECE1, UCP3, LIPE, PDP1, SIM1, GFM1, COX8A, PRKAG2, NUBPL, MT-TT, HTR1A, SCNN1G, NDUFAF6, QDPR, NDUFAF4, MRPS22, KRT85, ADCK3, SCNN1A, EDA, MT-TK, NNT, MSMO1, HADHA, ORAI1, CRLF1, ACAD9, PNPLA8, MPC1, DNM1L, TNFRSF1A, TMEM173, GUCY2C, CYP2D6, ABCC8, PCCB, FAM20C, YARS2, PPARG, OAS1, SDHD, SLC22A5, SLC25A19, HLA-DRB1, BCS1L, KIF1B, IL36RN, INVS, COQ2, MT-ND1, ADAMTS13, KRT74, MCCC1, HNF1A, NDUFA9, ACADSB, H19, MCCC2, AQP2, CFH, TK2, CHRND, FAH, EDARADD, NDUFS3, FBXL4, COX14, MT-ND4, SDHA, PPARGC1B, SUCLG1, SERPINA6, CACNA1S, STX11, DLAT, TMEM165, MT-TS2, FASTKD2, POLG, NDUFAF5, CEP19, SLC12A1, SLC12A3, CYP17A1, TUFM, ETFB, ISCU, MPV17, HLCS, CHRNG, NDUFA11, GLB1, ACAT1, ELAC2, COX10, COX6B1, IBA57, NDUFS8, COX20, NEUROG3, CECR1, HSD17B10, VIPAS39, AUH, UMPS, GYS2, RRM2B, PRSS2, IFT172, GCH1, SLC16A1, LYRM7, AKT2, AGXT, CPT1A, BCKDHA, AQP7, GNAI2, ASS1, MT-TD, TSFM, AVPR2, PUS1, SLC4A1, NDUFA2, SLC7A7, ACADVL, CYP24A1, NFU1, LRP6, ALDH2, LARS, CFHR3, MYH3, HNF4A, SFXN4, MC2R, NLRC4, FOXP3, NDUFS1, RMND1, CFTR, UQCRC2, PHOX2B, SLC25A4, MT-TS1, CDKN1C, OGDH, ACADM, GAA, LYRM4, PAH, HESX1, NME1, NGF, PCDH19, ASL, PRNP, PDHA1, NSD1, IKBKAP, POMC, NDUFV2, SLC5A1, CPS1, UQCC3, LIFR, CA5A, FAM20A, MT-ND5, TACO1, RET, KCNQ1OT1, MTRR, DOLK, CFHR1, CYC1, NR0B2, MTHFD1, PC, CACNA1D