Træk
IQ less than 20
Klinisk navn: Profound intellectual disability
Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20.
Resumé
- Også kaldet
- Intellectual disability, profound
- Kropssystem
- Abnormality of the nervous system
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Bestil min Genome Test117 gener knyttet til IQ less than 20
Ændringer i disse gener forårsager sjældne tilstande, hvor IQ less than 20 ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Altid | I 1 tilstand |
| ARV1ARV1 fatty acid homeostasis modulator | Altid | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Altid | I 2 tilstande |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Altid | I 1 tilstand |
| ATP6V0CATPase H+ transporting V0 subunit c | Altid | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Altid | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Altid | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Altid | I 1 tilstand |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Altid | I 1 tilstand |
| DHRSXdehydrogenase/reductase X-linked | Altid | I 1 tilstand |
| DMXL2Dmx like 2 | Altid | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Altid | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Altid | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Altid | I 1 tilstand |
| FDXRferredoxin reductase | Altid | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Altid | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altid | I 2 tilstande |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Altid | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Altid | I 1 tilstand |
| MED23mediator complex subunit 23 | Altid | I 1 tilstand |
| MRAPmelanocortin 2 receptor accessory protein | Altid | I 1 tilstand |
| NAPBNSF attachment protein beta | Altid | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Altid | I 1 tilstand |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Altid | I 1 tilstand |
| NUP133nucleoporin 133 | Altid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Altid | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Altid | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Altid | I 1 tilstand |
| RNF113Aring finger protein 113A | Altid | I 1 tilstand |
| RNF13ring finger protein 13 | Altid | I 2 tilstande |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Altid | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Altid | I 1 tilstand |
| STRA6signaling receptor and transporter of retinol STRA6 | Altid | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Altid | I 1 tilstand |
| SYNJ1synaptojanin 1 | Altid | I 1 tilstand |
Vis 77 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TBCKTBC1 domain containing kinase | Altid | I 1 tilstand |
| THAP11THAP domain containing 11 | Altid | I 1 tilstand |
| TRAPPC4trafficking protein particle complex subunit 4 | Altid | I 1 tilstand |
| UBTFupstream binding transcription factor | Altid | I 2 tilstande |
| WASHC4WASH complex subunit 4 | Altid | I 1 tilstand |
| WDR45BWD repeat domain 45B | Altid | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Meget ofte (80–99 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Meget ofte (80–99 %) | I 1 tilstand |
| DIAPH1diaphanous related formin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Meget ofte (80–99 %) | I 3 tilstande |
| IFIH1interferon induced with helicase C domain 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Meget ofte (80–99 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Meget ofte (80–99 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Meget ofte (80–99 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Meget ofte (80–99 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC39A8solute carrier family 39 member 8 | Meget ofte (80–99 %) | I 2 tilstande |
| SLC9A6solute carrier family 9 member A6 | Meget ofte (80–99 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ASXL3ASXL transcriptional regulator 3 | Ofte (30–79 %) | I 1 tilstand |
| CLIC2CLIC family member 2 | Ofte (30–79 %) | I 1 tilstand |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Ofte (30–79 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOSC5exosome component 5 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Ofte (30–79 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Ofte (30–79 %) | I 1 tilstand |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| PUS3pseudouridine synthase 3 | Ofte (30–79 %) | I 2 tilstande |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Ofte (30–79 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Ofte (30–79 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PCDH19protocadherin 19 | Nogle gange (5–29 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Sjældent (1–4%) | I 1 tilstand |
| SMSspermine synthase | Sjældent (1–4%) | I 1 tilstand |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Ikke registreret | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registreret | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ikke registreret | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ikke registreret | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registreret | I 1 tilstand |
| FHfumarate hydratase | Ikke registreret | I 1 tilstand |
| FKRPfukutin related protein | Ikke registreret | I 2 tilstande |
| FKTNfukutin | Ikke registreret | I 1 tilstand |
| GUF1GTP binding elongation factor GUF1 | Ikke registreret | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Ikke registreret | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registreret | I 1 tilstand |
| IER3IP1immediate early response 3 interacting protein 1 | Ikke registreret | I 1 tilstand |
| OCLNoccludin | Ikke registreret | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ikke registreret | I 1 tilstand |
| PCDH12protocadherin 12 | Ikke registreret | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ikke registreret | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ikke registreret | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ikke registreret | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ikke registreret | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Ikke registreret | I 2 tilstande |
| RAB18RAB18, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Ikke registreret | I 1 tilstand |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Ikke registreret | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| VARS1valyl-tRNA synthetase 1 | Ikke registreret | I 1 tilstand |
| VPS53VPS53 subunit of GARP complex | Ikke registreret | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger