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Tunnus
Hypsarrhythmia
Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).
Kokkuvõte
- Teised nimetused
- Hypsarrhythmia by EEG
- Kehasüsteem
- Abnormality of the nervous system
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/hypsarrhythmia.json"
page <- fromJSON(url)
page$trait$nameHypsarrhythmiaHP:0002521
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Hypsarrhythmia-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test67 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.
- Epilepsy (Full Panel)Reads 102 of these genesALG13ARV1ARXATP6V1ADNM1EEF1A2About this report →
- Familial Hemiplegic MigraineReads 3 of these genesATP1A2CACNA1ASCN1AAbout this report →
- Congenital Disorders of GlycosylationReads 15 of these genesALG13ALG2DPAGT1PIGAPIGWST3GAL3About this report →
- Hereditary Episodic AtaxiasReads 3 of these genesSCN2AKCNA1CACNA1AAbout this report →
Show 63 more reports
- Intellectual DisabilityReads 17 of these genesGRIN2BST3GAL3TBL1XR1SCN2ACASKFGF13About this report →
- Disorders of Glycine & Serine MetabolismReads 3 of these genesGCSHSLC1A4PHGDHAbout this report →
- Lissencephaly Spectrum DisordersReads 5 of these genesARXAPC2CTNNA2DCXPAFAH1B1About this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 4 of these genesTUBB2AAPC2CAMSAP1CTNNA2About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 3 of these genesTUBB2ACACNA1ACACNA1BAbout this report →
- 3-Methylglutaconic Aciduria Type 9 (TIMM50)Reads 1 of these genesTIMM50About this report →
- ARFGEF1-Related Neurodevelopmental DisorderReads 1 of these genesARFGEF1About this report →
- Asparagine Synthetase DeficiencyReads 1 of these genesASNSAbout this report →
- ATP1A2-Related Fetal Akinesia with PolymicrogyriaReads 1 of these genesATP1A2About this report →
- Beta-ureidopropionase deficiencyReads 1 of these genesUPB1About this report →
- Canavan DiseaseReads 1 of these genesASPAAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- HIBCH DeficiencyReads 1 of these genesHIBCHAbout this report →
- KCNQ2-Related Neonatal Encephalopathy with Non-Epileptic MyoclonusReads 1 of these genesKCNQ2About this report →
- Kohlschütter-Tönz SyndromeReads 1 of these genesROGDIAbout this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Vici SyndromeReads 1 of these genesEPG5About this report →
- GPI Anchor Biosynthesis DefectsReads 4 of these genesPIGAPIGWPIGPPIGQAbout this report →
- Periventricular Nodular HeterotopiaReads 2 of these genesNEDD4LARFGEF2About this report →
- Classic Organic AciduriasReads 2 of these genesMCCC1HMGCLAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 11 of these genesATP7AMFFSPTAN1HIBCHNDUFAF8PNKPAbout this report →
- DOORS SyndromeReads 1 of these genesTBC1D24About this report →
- Encephalopathy due to Mitochondrial and Peroxisomal Fission DefectReads 1 of these genesMFFAbout this report →
- Inherited Neurodegenerative DisordersReads 12 of these genesATP7ASPTAN1WDR45ZNHIT3PNKPAARS1About this report →
- HyperinsulinismReads 2 of these genesABCC8KCNJ11About this report →
- Leigh SyndromeReads 5 of these genesMFFHIBCHNDUFAF8GFM2PDHA1About this report →
- Congenital Myasthenic SyndromeReads 3 of these genesALG2DPAGT1ALG14About this report →
- Maturity-Onset Diabetes Of The YoungReads 2 of these genesABCC8KCNJ11About this report →
- Disorder of Copper MetabolismReads 1 of these genesATP7AAbout this report →
- Diabetes MellitusReads 3 of these genesABCC8KCNJ11MT-TL1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 3 of these genesATN1ATP1A3CACNA1AAbout this report →
- Cutis LaxaReads 2 of these genesATP6V1AATP7AAbout this report →
- NeurofibromatosisReads 1 of these genesNF1About this report →
- TubulinopathiesReads 1 of these genesTUBB2AAbout this report →
- Neonatal Diabetes MellitusReads 2 of these genesABCC8KCNJ11About this report →
- Sclerosing Bone Dysplasias (High Bone Mass)Reads 1 of these genesTGFB1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 2 of these genesTRA2BAFG2AAbout this report →
- Cornelia de Lange SyndromeReads 1 of these genesSMC1AAbout this report →
- Inflammatory Bowel Diseases (IBD)Reads 1 of these genesTGFB1About this report →
- Spinal Muscular AtrophyReads 2 of these genesATP7ASPTAN1About this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesATP7ASPTAN1AARS1About this report →
- Other Inherited LeukodystrophiesReads 3 of these genesAARS1ASPAAIMP2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 2 of these genesPNKPATP1A3About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHA1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesWDR45About this report →
- BH4 Deficiency & Monoamine Neurotransmitter DisordersReads 1 of these genesPTSAbout this report →
- Urea Cycle DisorderReads 1 of these genesMCCC1About this report →
- Hereditary Optic NeuropathyReads 1 of these genesATP1A3About this report →
- Methylmalonic & Propionic AcidemiaReads 1 of these genesHCFC1About this report →
- Monogenic Hypertension & Mineralocorticoid DisordersReads 1 of these genesCUL3About this report →
- Parkinson DiseaseReads 1 of these genesSYNJ1About this report →
- Primary Mitochondrial DiseaseReads 3 of these genesNDUFAF8GFM2NARS2About this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesHMGCLAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesHCFC1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesAIMP2About this report →
- Dilated CardiomyopathyReads 1 of these genesDOLKAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 1 of these genesPNKPAbout this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesSPTAN1About this report →
- Retinitis PigmentosaReads 1 of these genesDHDDSAbout this report →
- Hearing Loss and DeafnessReads 1 of these genesTBC1D24About this report →
Lugege välja geenid, mis on seotud Hypsarrhythmia-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test199 geeni on seotud tunnusega Hypsarrhythmia
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Hypsarrhythmia. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Alati | Esineb 2 haiguses |
| ALG2ALG2 alpha-1,3/1,6-mannosyltransferase | Alati | Esineb 2 haiguses |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Alati | Esineb 1 haiguses |
| ARV1ARV1 fatty acid homeostasis modulator | Alati | Esineb 1 haiguses |
| ARXaristaless related homeobox | Alati | Esineb 3 haiguses |
| ATP6V1AATPase H+ transporting V1 subunit A | Alati | Esineb 3 haiguses |
| ATP7AATPase copper transporting alpha | Alati | Esineb 1 haiguses |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Alati | Esineb 1 haiguses |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Alati | Esineb 1 haiguses |
| DNM1dynamin 1 | Alati | Esineb 3 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Alati | Esineb 2 haiguses |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alati | Esineb 2 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Alati | Esineb 1 haiguses |
| ERMARDER membrane associated RNA degradation | Alati | Esineb 2 haiguses |
| ESAMendothelial cell adhesion molecule | Alati | Esineb 1 haiguses |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Alati | Esineb 1 haiguses |
| GCSHglycine cleavage system protein H | Alati | Esineb 1 haiguses |
| GOLGA2golgin A2 | Alati | Esineb 1 haiguses |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Alati | Esineb 2 haiguses |
| IER3IP1immediate early response 3 interacting protein 1 | Alati | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alati | Esineb 1 haiguses |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Alati | Esineb 1 haiguses |
| KLHL20kelch like family member 20 | Alati | Esineb 1 haiguses |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Alati | Esineb 1 haiguses |
| MED17mediator complex subunit 17 | Alati | Esineb 1 haiguses |
| MFFmitochondrial fission factor | Alati | Esineb 2 haiguses |
| MSL2MSL complex subunit 2 | Alati | Esineb 1 haiguses |
| NEUROD2neuronal differentiation 2 | Alati | Esineb 2 haiguses |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Alati | Esineb 2 haiguses |
| PHACTR1phosphatase and actin regulator 1 | Alati | Esineb 2 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 3 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Alati | Esineb 1 haiguses |
| PLCB1phospholipase C beta 1 | Alati | Esineb 3 haiguses |
| PTPN23protein tyrosine phosphatase non-receptor type 23 | Alati | Esineb 1 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Alati | Esineb 1 haiguses |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Alati | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Alati | Esineb 1 haiguses |
| TRIM8tripartite motif containing 8 | Alati | Esineb 2 haiguses |
| CDKL5cyclin dependent kinase like 5 | Väga sageli (80–99%) | Esineb 4 haiguses |
| CNPY3canopy FGF signaling regulator 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 159 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| GUF1GTP binding elongation factor GUF1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SIK1salt inducible kinase 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SLC35A2solute carrier family 35 member A2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SPOUT1SPOUT domain containing methyltransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| WDR45WD repeat domain 45 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNHIT3zinc finger HIT-type containing 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Sageli (30–79%) | Esineb 1 haiguses |
| ATAD1ATPase family AAA domain containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Sageli (30–79%) | Esineb 1 haiguses |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sageli (30–79%) | Esineb 2 haiguses |
| CASKcalcium/calmodulin dependent serine protein kinase | Sageli (30–79%) | Esineb 1 haiguses |
| CELF2CUGBP Elav-like family member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| COX4I1cytochrome c oxidase subunit 4I1 | Sageli (30–79%) | Esineb 1 haiguses |
| CUL3cullin 3 | Sageli (30–79%) | Esineb 1 haiguses |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sageli (30–79%) | Esineb 2 haiguses |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| DMXL2Dmx like 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DOCK7dedicator of cytokinesis 7 | Sageli (30–79%) | Esineb 2 haiguses |
| EPM2AEPM2A glucan phosphatase, laforin | Sageli (30–79%) | Esineb 1 haiguses |
| EXOC8exocyst complex component 8 | Sageli (30–79%) | Esineb 1 haiguses |
| FGF12fibroblast growth factor 12 | Sageli (30–79%) | Esineb 2 haiguses |
| FGF13fibroblast growth factor 13 | Sageli (30–79%) | Esineb 1 haiguses |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sageli (30–79%) | Esineb 2 haiguses |
| GNAO1G protein subunit alpha o1 | Sageli (30–79%) | Esineb 2 haiguses |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Sageli (30–79%) | Esineb 2 haiguses |
| GRM7glutamate metabotropic receptor 7 | Sageli (30–79%) | Esineb 1 haiguses |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Sageli (30–79%) | Esineb 1 haiguses |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Sageli (30–79%) | Esineb 2 haiguses |
| LGI1leucine rich glioma inactivated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MPDU1mannose-P-dolichol utilization defect 1 | Sageli (30–79%) | Esineb 2 haiguses |
| NACC1nucleus accumbens associated 1 | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFAF8NADH:ubiquinone oxidoreductase complex assembly factor 8 | Sageli (30–79%) | Esineb 1 haiguses |
| NHLRC1NHL repeat containing E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OTUD7AOTU deubiquitinase 7A | Sageli (30–79%) | Esineb 1 haiguses |
| PCDH12protocadherin 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sageli (30–79%) | Esineb 2 haiguses |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sageli (30–79%) | Esineb 1 haiguses |
| PLAAphospholipase A2 activating protein | Sageli (30–79%) | Esineb 1 haiguses |
| PNKPpolynucleotide kinase 3'-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sageli (30–79%) | Esineb 2 haiguses |
| RHOBTB2Rho related BTB domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RUSC2RUN and SH3 domain containing 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC1A2solute carrier family 1 member 2 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC25A22solute carrier family 25 member 22 | Sageli (30–79%) | Esineb 2 haiguses |
| SLC32A1solute carrier family 32 member 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SYNJ1synaptojanin 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TGFB1transforming growth factor beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TIMM50translocase of inner mitochondrial membrane 50 | Sageli (30–79%) | Esineb 2 haiguses |
| TRA2Btransformer 2 beta homolog | Sageli (30–79%) | Esineb 1 haiguses |
| TRAPPC12trafficking protein particle complex subunit 12 | Sageli (30–79%) | Esineb 2 haiguses |
| TUBB2Atubulin beta 2A class IIa | Sageli (30–79%) | Esineb 1 haiguses |
| UNC13Aunc-13 homolog A | Sageli (30–79%) | Esineb 1 haiguses |
| AARS1alanyl-tRNA synthetase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ABCC8ATP binding cassette subfamily C member 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACTL6Bactin like 6B | Mõnikord (5–29%) | Esineb 1 haiguses |
| AFG2AAAA ATPase AFG2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDH7A1aldehyde dehydrogenase 7 family member A1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| APC2APC regulator of Wnt signaling pathway 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ASPAaspartoacylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATN1atrophin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAMSAP1calmodulin regulated spectrin associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAPRIN1cell cycle associated protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK19cyclin dependent kinase 19 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CLTCclathrin heavy chain | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTNNA2catenin alpha 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CUX2cut like homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DALRD3DALR anticodon binding domain containing 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DCXdoublecortin | Mõnikord (5–29%) | Esineb 1 haiguses |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Mõnikord (5–29%) | Esineb 2 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOLKdolichol kinase | Mõnikord (5–29%) | Esineb 2 haiguses |
| FBXO28F-box protein 28 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FHfumarate hydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXG1forkhead box G1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FZR1fizzy and cell division cycle 20 related 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GAD1glutamate decarboxylase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| GNB1G protein subunit beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB5G protein subunit beta 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCFC1host cell factor C1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HID1HID1 domain containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Mõnikord (5–29%) | Esineb 1 haiguses |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 2 haiguses |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LONP1lon peptidase 1, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Mõnikord (5–29%) | Esineb 1 haiguses |
| NAXDNAD(P)HX dehydratase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NECAP1NECAP endocytosis associated 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| PACS2phosphofurin acidic cluster sorting protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| PLPBPpyridoxal phosphate binding protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| PPFIBP1PPFIB scaffold protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTS6-pyruvoyltetrahydropterin synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB1SATB homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Mõnikord (5–29%) | Esineb 3 haiguses |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC12A5solute carrier family 12 member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC13A5solute carrier family 13 member 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC1A4solute carrier family 1 member 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC38A3solute carrier family 38 member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC39A8solute carrier family 39 member 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SZT2SZT2 subunit of KICSTOR complex | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRAK1trafficking kinesin protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UBA5ubiquitin like modifier activating enzyme 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UFSP2UFM1 specific peptidase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UPB1beta-ureidopropionase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF526zinc finger protein 526 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NPRL2NPR2 like, GATOR1 complex subunit | Harva (1–4%) | Esineb 1 haiguses |
| NPRL3NPR3 like, GATOR1 complex subunit | Harva (1–4%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Harva (1–4%) | Esineb 2 haiguses |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harva (1–4%) | Esineb 1 haiguses |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Pole registreeritud | Esineb 1 haiguses |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Pole registreeritud | Esineb 1 haiguses |
| ARFGEF2ARF guanine nucleotide exchange factor 2 | Pole registreeritud | Esineb 1 haiguses |
| GLYCTKglycerate kinase | Pole registreeritud | Esineb 1 haiguses |
| MDH1malate dehydrogenase 1 | Pole registreeritud | Esineb 1 haiguses |
| NF1neurofibromin 1 | Pole registreeritud | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
| ROGDIrogdi atypical leucine zipper | Pole registreeritud | Esineb 1 haiguses |
| UGDHUDP-glucose 6-dehydrogenase | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.19-9814e911.
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