Trait
Encephalopathy
Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Summary
- Body system
- Abnormality of the nervous system
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page$trait$nameRead the genes linked to Encephalopathy, and the rest of your genome, with one test.
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Get my Genome Test60 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Leigh SyndromeReads 38 of these genesFBXL4OPA1PNPT1SCO2ETHE1FOXRED1About this report →
- Primary Mitochondrial DiseaseReads 52 of these genesATP5F1ACOQ9COX16FBXL4NDUFAF4NDUFB3About this report →
- Epilepsy (Full Panel)Reads 61 of these genesMECP2PIGASCN2AAARS1ACTL6BAP3B2About this report →
- Hereditary Optic NeuropathyReads 7 of these genesDNM1LOPA1ATP1A3MT-ND1MT-ND4MT-ND5About this report →
Show 56 more reports
- Familial Hemiplegic MigraineReads 3 of these genesATP1A2CACNA1ASCN1AAbout this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 6 of these genesHMGCS2SLC25A20ACAD9HMGCLCPT2SLC22A5About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 3 of these genesMPC1DLDLIASAbout this report →
- Hereditary Episodic AtaxiasReads 2 of these genesSCN2ACACNA1AAbout this report →
- Thiamine Transporter and Metabolism DisordersReads 2 of these genesTPK1SLC19A3About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- Genetic Prion Disease (incl. Fatal Familial Insomnia)Reads 1 of these genesPRNPAbout this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- Krabbe DiseaseReads 1 of these genesGALCAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- Urea Cycle DisorderReads 3 of these genesOTCCA5ANAGSAbout this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 2 of these genesAMACRACOX1About this report →
- Methylmalonic & Propionic AcidemiaReads 3 of these genesMMADHCACSF3MMACHCAbout this report →
- Classic Organic AciduriasReads 2 of these genesGCDHHMGCLAbout this report →
- Aicardi-Goutieres SyndromeReads 2 of these genesRNASEH2BRNASEH2CAbout this report →
- Disorders of Glycine & Serine MetabolismReads 2 of these genesGLDCSLC6A9About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Gilbert SyndromeReads 1 of these genesUGT1A1About this report →
- Metachromatic LeukodystrophyReads 1 of these genesPSAPAbout this report →
- Riboflavin Transporter DeficiencyReads 1 of these genesSLC52A3About this report →
- Other Inherited LeukodystrophiesReads 6 of these genesNADK2AARS1GALCPSAPRNASEH2BRNASEH2CAbout this report →
- Homocystinuria & Cobalamin DisordersReads 3 of these genesMMADHCMMACHCMTHFRAbout this report →
- Intellectual DisabilityReads 9 of these genesMECP2SCN2ACLTCCNKSR2NUS1SYNGAP1About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesSMARCAL1About this report →
- Charcot-Marie-Tooth DiseaseReads 5 of these genesITPR3SCO2AARS1MPV17BSCL2About this report →
- Parkinson DiseaseReads 2 of these genesGBA1SYNJ1About this report →
- Congenital Disorders of GlycosylationReads 5 of these genesPIGADHDDSNUS1DPM1SLC35A1About this report →
- GalactosemiaReads 1 of these genesGALTAbout this report →
- Maple Syrup Urine DiseaseReads 1 of these genesDLDAbout this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesSMC5About this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesTGFB1About this report →
- Other Inborn Errors of ImmunityReads 6 of these genesFADDITPR3STAT2SMARCAL1RNASEH2BRNASEH2CAbout this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesTGFB1About this report →
- Lysosomal Storage DiseaseReads 3 of these genesGBA1GALCPSAPAbout this report →
- Diabetes MellitusReads 2 of these genesMT-TL1BSCL2About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 2 of these genesRNASEH2BRNASEH2CAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesATP1A3CACNA1AAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesATP1A3SLC2A1About this report →
- LipodystrophyReads 1 of these genesBSCL2About this report →
- Severe Congenital NeutropeniaReads 1 of these genesCLPBAbout this report →
- Female InfertilityReads 2 of these genesTWNKGALTAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesTWNKATG7About this report →
- Cutis LaxaReads 1 of these genesATP6V1AAbout this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesBSCL2GPT2About this report →
- Epidermolysis BullosaReads 1 of these genesDSTAbout this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGAAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesBSCL2About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesDSTAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesSLC25A1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesNDUFB11About this report →
- Spinal Muscular AtrophyReads 1 of these genesBSCL2About this report →
- DNA Repair DiseaseReads 1 of these genesAPTXAbout this report →
- Retinitis PigmentosaReads 1 of these genesDHDDSAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesPNPT1About this report →
Read the genes linked to Encephalopathy, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test243 genes linked to Encephalopathy
Changes in these genes cause rare conditions in which Encephalopathy is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ATAD3AATPase family AAA domain containing 3A | Always | In 1 condition |
| ATP5F1AATP synthase F1 subunit alpha | Always | In 3 conditions |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Always | In 1 condition |
| COQ5coenzyme Q5, methyltransferase | Always | In 1 condition |
| COQ9coenzyme Q9 | Always | In 1 condition |
| COX16cytochrome c oxidase assembly factor COX16 | Always | In 1 condition |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Always | In 1 condition |
| DNM1Ldynamin 1L | Always | In 1 condition |
| DSTdystonin | Always | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Always | In 1 condition |
| FADDFas associated via death domain | Always | In 2 conditions |
| FBXL4F-box and leucine rich repeat protein 4 | Always | In 1 condition |
| FDXRferredoxin reductase | Always | In 1 condition |
| GLYCTKglycerate kinase | Always | In 1 condition |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Always | In 1 condition |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KYNUkynureninase | Always | In 1 condition |
| LIPT2lipoyl(octanoyl) transferase 2 | Always | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Always | In 2 conditions |
| MECP2methyl-CpG binding protein 2 | Always | In 2 conditions |
| MMADHCmetabolism of cobalamin associated D | Always | In 1 condition |
| NADK2NAD kinase 2, mitochondrial | Always | In 1 condition |
| NAXDNAD(P)HX dehydratase | Always | In 1 condition |
| NAXENAD(P)HX epimerase | Always | In 1 condition |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Always | In 2 conditions |
| NDUFB3NADH:ubiquinone oxidoreductase subunit B3 | Always | In 2 conditions |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Always | In 2 conditions |
| OPA1OPA1 mitochondrial dynamin like GTPase | Always | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Always | In 1 condition |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Always | In 1 condition |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Always | In 1 condition |
| RFC4replication factor C subunit 4 | Always | In 1 condition |
| RNH1ribonuclease/angiogenin inhibitor 1 | Always | In 1 condition |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Always | In 1 condition |
| SCO2synthesis of cytochrome C oxidase 2 | Always | In 1 condition |
| SNAPINSNAP associated protein | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| THAP11THAP domain containing 11 | Always | In 1 condition |
Show 203 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TRAPPC12trafficking protein particle complex subunit 12 | Always | In 1 condition |
| TWNKtwinkle mtDNA helicase | Always | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Very often (80–99%) | In 1 condition |
| ACTL6Bactin like 6B | Very often (80–99%) | In 1 condition |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Very often (80–99%) | In 1 condition |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Very often (80–99%) | In 1 condition |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Very often (80–99%) | In 2 conditions |
| ATP6V1AATPase H+ transporting V1 subunit A | Very often (80–99%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Very often (80–99%) | In 2 conditions |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Very often (80–99%) | In 1 condition |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Very often (80–99%) | In 1 condition |
| CDK19cyclin dependent kinase 19 | Very often (80–99%) | In 1 condition |
| CELF2CUGBP Elav-like family member 2 | Very often (80–99%) | In 1 condition |
| CHD2chromodomain helicase DNA binding protein 2 | Very often (80–99%) | In 1 condition |
| CLTCclathrin heavy chain | Very often (80–99%) | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Very often (80–99%) | In 1 condition |
| CUX2cut like homeobox 2 | Very often (80–99%) | In 1 condition |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Very often (80–99%) | In 1 condition |
| DALRD3DALR anticodon binding domain containing 3 | Very often (80–99%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Very often (80–99%) | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Very often (80–99%) | In 1 condition |
| DNM1dynamin 1 | Very often (80–99%) | In 2 conditions |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Very often (80–99%) | In 1 condition |
| ETHE1ETHE1 persulfide dioxygenase | Very often (80–99%) | In 2 conditions |
| FBXO28F-box protein 28 | Very often (80–99%) | In 1 condition |
| FGF12fibroblast growth factor 12 | Very often (80–99%) | In 1 condition |
| FOXG1forkhead box G1 | Very often (80–99%) | In 1 condition |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Very often (80–99%) | In 1 condition |
| FZR1fizzy and cell division cycle 20 related 1 | Very often (80–99%) | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Very often (80–99%) | In 1 condition |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Very often (80–99%) | In 1 condition |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Very often (80–99%) | In 1 condition |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Very often (80–99%) | In 1 condition |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Very often (80–99%) | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Very often (80–99%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Very often (80–99%) | In 2 conditions |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Very often (80–99%) | In 1 condition |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Very often (80–99%) | In 1 condition |
| HMGCS23-hydroxy-3-methylglutaryl-CoA synthase 2 | Very often (80–99%) | In 1 condition |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Very often (80–99%) | In 1 condition |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Very often (80–99%) | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Very often (80–99%) | In 1 condition |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Very often (80–99%) | In 1 condition |
| MAPK10mitogen-activated protein kinase 10 | Very often (80–99%) | In 1 condition |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Very often (80–99%) | In 3 conditions |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Very often (80–99%) | In 1 condition |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Very often (80–99%) | In 1 condition |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Very often (80–99%) | In 1 condition |
| NDUFA11NADH:ubiquinone oxidoreductase subunit A11 | Very often (80–99%) | In 2 conditions |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Very often (80–99%) | In 2 conditions |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Very often (80–99%) | In 1 condition |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Very often (80–99%) | In 2 conditions |
| NDUFAF2NADH:ubiquinone oxidoreductase complex assembly factor 2 | Very often (80–99%) | In 2 conditions |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Very often (80–99%) | In 1 condition |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Very often (80–99%) | In 1 condition |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Very often (80–99%) | In 1 condition |
| NDUFB10NADH:ubiquinone oxidoreductase subunit B10 | Very often (80–99%) | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Very often (80–99%) | In 1 condition |
| NDUFB9NADH:ubiquinone oxidoreductase subunit B9 | Very often (80–99%) | In 1 condition |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Very often (80–99%) | In 1 condition |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Very often (80–99%) | In 1 condition |
| NDUFS3NADH:ubiquinone oxidoreductase core subunit S3 | Very often (80–99%) | In 2 conditions |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Very often (80–99%) | In 1 condition |
| NDUFS6NADH:ubiquinone oxidoreductase subunit S6 | Very often (80–99%) | In 2 conditions |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Very often (80–99%) | In 2 conditions |
| NDUFS8NADH:ubiquinone oxidoreductase core subunit S8 | Very often (80–99%) | In 1 condition |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Very often (80–99%) | In 1 condition |
| NECAP1NECAP endocytosis associated 1 | Very often (80–99%) | In 1 condition |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Very often (80–99%) | In 1 condition |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Very often (80–99%) | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Very often (80–99%) | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Very often (80–99%) | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Very often (80–99%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Very often (80–99%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Very often (80–99%) | In 2 conditions |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Very often (80–99%) | In 1 condition |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Very often (80–99%) | In 1 condition |
| SLC13A5solute carrier family 13 member 5 | Very often (80–99%) | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Very often (80–99%) | In 1 condition |
| SLC25A20solute carrier family 25 member 20 | Very often (80–99%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Very often (80–99%) | In 1 condition |
| SLC38A3solute carrier family 38 member 3 | Very often (80–99%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Very often (80–99%) | In 1 condition |
| SYNJ1synaptojanin 1 | Very often (80–99%) | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Very often (80–99%) | In 1 condition |
| TIMM50translocase of inner mitochondrial membrane 50 | Very often (80–99%) | In 1 condition |
| TIMMDC1translocase of inner mitochondrial membrane domain containing 1 | Very often (80–99%) | In 1 condition |
| TMEM126Btransmembrane protein 126B | Very often (80–99%) | In 1 condition |
| TRAK1trafficking kinesin protein 1 | Very often (80–99%) | In 2 conditions |
| UBA5ubiquitin like modifier activating enzyme 5 | Very often (80–99%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Very often (80–99%) | In 1 condition |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Very often (80–99%) | In 1 condition |
| ACAD9acyl-CoA dehydrogenase family member 9 | Often (30–79%) | In 2 conditions |
| ACY1aminoacylase 1 | Often (30–79%) | In 1 condition |
| AMACRalpha-methylacyl-CoA racemase | Often (30–79%) | In 1 condition |
| ATG7autophagy related 7 | Often (30–79%) | In 1 condition |
| ATP5F1DATP synthase F1 subunit delta | Often (30–79%) | In 2 conditions |
| ATP5F1EATP synthase F1 subunit epsilon | Often (30–79%) | In 1 condition |
| ATP5MKATP synthase membrane subunit k | Often (30–79%) | In 1 condition |
| ATP5POATP synthase peripheral stalk subunit OSCP | Often (30–79%) | In 1 condition |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Often (30–79%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Often (30–79%) | In 1 condition |
| CYC1cytochrome c1 | Often (30–79%) | In 1 condition |
| DBR1debranching RNA lariats 1 | Often (30–79%) | In 1 condition |
| FHfumarate hydratase | Often (30–79%) | In 1 condition |
| GCDHglutaryl-CoA dehydrogenase | Often (30–79%) | In 1 condition |
| GFM1G elongation factor mitochondrial 1 | Often (30–79%) | In 1 condition |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Often (30–79%) | In 1 condition |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Often (30–79%) | In 1 condition |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Often (30–79%) | In 2 conditions |
| MT-CO2mitochondrially encoded cytochrome c oxidase II | Often (30–79%) | In 2 conditions |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Often (30–79%) | In 2 conditions |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Often (30–79%) | In 1 condition |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Often (30–79%) | In 2 conditions |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Often (30–79%) | In 2 conditions |
| MT-TFmitochondrially encoded tRNA-Phe (UUU/C) | Often (30–79%) | In 2 conditions |
| MT-THmitochondrially encoded tRNA-His (CAU/C) | Often (30–79%) | In 2 conditions |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Often (30–79%) | In 2 conditions |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Often (30–79%) | In 2 conditions |
| MT-TQmitochondrially encoded tRNA-Gln (CAA/G) | Often (30–79%) | In 2 conditions |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Often (30–79%) | In 2 conditions |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Often (30–79%) | In 2 conditions |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Often (30–79%) | In 2 conditions |
| MTO1mitochondrial tRNA translation optimization 1 | Often (30–79%) | In 1 condition |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Often (30–79%) | In 1 condition |
| NFU1NFU1 iron-sulfur cluster scaffold | Often (30–79%) | In 2 conditions |
| OTCornithine transcarbamylase | Often (30–79%) | In 1 condition |
| POLGDNA polymerase gamma, catalytic subunit | Often (30–79%) | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Often (30–79%) | In 1 condition |
| SERAC1serine active site containing 1 | Often (30–79%) | In 2 conditions |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Often (30–79%) | In 2 conditions |
| TSFMTs translation elongation factor, mitochondrial | Often (30–79%) | In 1 condition |
| ACSF3acyl-CoA synthetase family member 3 | Sometimes (5–29%) | In 1 condition |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Sometimes (5–29%) | In 1 condition |
| CA5Acarbonic anhydrase 5A | Sometimes (5–29%) | In 1 condition |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Sometimes (5–29%) | In 1 condition |
| DPM1dolichyl-phosphate mannosyltransferase subunit 1, catalytic | Sometimes (5–29%) | In 1 condition |
| GALCgalactosylceramidase | Sometimes (5–29%) | In 1 condition |
| GALTgalactose-1-phosphate uridylyltransferase | Sometimes (5–29%) | In 1 condition |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Sometimes (5–29%) | In 1 condition |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Sometimes (5–29%) | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Sometimes (5–29%) | In 2 conditions |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Sometimes (5–29%) | In 1 condition |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Sometimes (5–29%) | In 1 condition |
| LRPPRCleucine rich pentatricopeptide repeat containing | Sometimes (5–29%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Sometimes (5–29%) | In 1 condition |
| MPC1mitochondrial pyruvate carrier 1 | Sometimes (5–29%) | In 1 condition |
| MPV17mitochondrial inner membrane protein MPV17 | Sometimes (5–29%) | In 1 condition |
| NOTCH3notch receptor 3 | Sometimes (5–29%) | In 1 condition |
| PSAPprosaposin | Sometimes (5–29%) | In 1 condition |
| SLC52A3solute carrier family 52 member 3 | Sometimes (5–29%) | In 1 condition |
| SMC5structural maintenance of chromosomes 5 | Sometimes (5–29%) | In 1 condition |
| STAT2signal transducer and activator of transcription 2 | Sometimes (5–29%) | In 1 condition |
| TPK1thiamin pyrophosphokinase 1 | Sometimes (5–29%) | In 1 condition |
| GPR35G protein-coupled receptor 35 | Rarely (1–4%) | In 1 condition |
| MST1macrophage stimulating 1 | Rarely (1–4%) | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Rarely (1–4%) | In 1 condition |
| NAGSN-acetylglutamate synthase | Rarely (1–4%) | In 1 condition |
| SEMA4Dsemaphorin 4D | Rarely (1–4%) | In 1 condition |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Rarely (1–4%) | In 1 condition |
| TCF4transcription factor 4 | Rarely (1–4%) | In 1 condition |
| ACOX1acyl-CoA oxidase 1 | Not recorded | In 1 condition |
| APTXaprataxin | Not recorded | In 1 condition |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Not recorded | In 1 condition |
| ATAD1ATPase family AAA domain containing 1 | Not recorded | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Not recorded | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Not recorded | In 1 condition |
| COQ2coenzyme Q2, polyprenyltransferase | Not recorded | In 1 condition |
| COX15cytochrome c oxidase assembly factor COX15 | Not recorded | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Not recorded | In 1 condition |
| DGUOKdeoxyguanosine kinase | Not recorded | In 1 condition |
| DLDdihydrolipoamide dehydrogenase | Not recorded | In 1 condition |
| GLDCglycine decarboxylase | Not recorded | In 1 condition |
| GLULglutamate-ammonia ligase | Not recorded | In 1 condition |
| GPT2glutamic--pyruvic transaminase 2 | Not recorded | In 1 condition |
| IBA57iron-sulfur cluster assembly factor IBA57 | Not recorded | In 1 condition |
| ITPAinosine triphosphatase | Not recorded | In 1 condition |
| LIASlipoic acid synthetase | Not recorded | In 1 condition |
| LYRM7LYR motif containing 7 | Not recorded | In 1 condition |
| MT-CYBmitochondrially encoded cytochrome b | Not recorded | In 1 condition |
| MT-TCmitochondrially encoded tRNA-Cys (UGU/C) | Not recorded | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Not recorded | In 1 condition |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Not recorded | In 1 condition |
| PNPOpyridoxamine 5'-phosphate oxidase | Not recorded | In 1 condition |
| PRNPprion protein (Kanno blood group) | Not recorded | In 1 condition |
| RANBP2RAN binding protein 2 | Not recorded | In 1 condition |
| RNASEH2Bribonuclease H2 subunit B | Not recorded | In 1 condition |
| RNASEH2Cribonuclease H2 subunit C | Not recorded | In 1 condition |
| SERPINI1serpin family I member 1 | Not recorded | In 1 condition |
| SIK1salt inducible kinase 1 | Not recorded | In 1 condition |
| SLC19A3solute carrier family 19 member 3 | Not recorded | In 1 condition |
| SLC22A5solute carrier family 22 member 5 | Not recorded | In 1 condition |
| SLC25A1solute carrier family 25 member 1 | Not recorded | In 1 condition |
| SLC35A1solute carrier family 35 member A1 | Not recorded | In 1 condition |
| SLC6A9solute carrier family 6 member 9 | Not recorded | In 1 condition |
| TBCDtubulin folding cofactor D | Not recorded | In 1 condition |
| TBCEtubulin folding cofactor E | Not recorded | In 1 condition |
| TBCKTBC1 domain containing kinase | Not recorded | In 1 condition |
| TGFB1transforming growth factor beta 1 | Not recorded | In 1 condition |
| TMEM70transmembrane protein 70 | Not recorded | In 1 condition |
| TUFMTu translation elongation factor, mitochondrial | Not recorded | In 1 condition |
| UGT1A1UDP glucuronosyltransferase family 1 member A1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
- Epileptic encephalopathy134 genes
- Hepatic encephalopathy24 genes
- Acute encephalopathy15 genes
- Progressive brain disease12 genes
- Infantile encephalopathy7 genes
- Hypoglycemic encephalopathy3 genes
- Mitochondrial encephalopathy3 genes
- Nonprogressive encephalopathy3 genes
- Congenital encephalopathy1 gene
- Recurrent encephalopathy1 gene
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
From traits to your genome
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