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Požymis

IQ less than 20

Klinikinis pavadinimas: 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.

HPO HP:0002187

Santrauka

Taip pat vadinama
Intellectual disability, profound
Kūno sistema
Abnormality of the nervous system

67 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.

Show 63 more reports

Every condition report

Vienu tyrimu sužinokite genus, susijusius su IQ less than 20, ir kitą jūsų genomo dalį.

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117 genų susiję su IQ less than 20

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia IQ less than 20. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.

GenasKaip dažnai pasireiškiaLigos
ADAM22ADAM metallopeptidase domain 22Visada1 ligoje
ARV1ARV1 fatty acid homeostasis modulatorVisada1 ligoje
ASXL1ASXL transcriptional regulator 1Visada2 ligose
ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolaseVisada1 ligoje
ATP6V0CATPase H+ transporting V0 subunit cVisada1 ligoje
ATXN7L3ataxin 7 like 3Visada1 ligoje
BORCS8BLOC-1 related complex subunit 8Visada1 ligoje
CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1Visada1 ligoje
CCDC88Acoiled-coil and HOOK domain protein 88AVisada1 ligoje
DHRSXdehydrogenase/reductase X-linkedVisada1 ligoje
DMXL2Dmx like 2Visada1 ligoje
DPH5diphthamide biosynthesis 5Visada1 ligoje
ELOVL4ELOVL fatty acid elongase 4Visada1 ligoje
FAR1fatty acyl-CoA reductase 1Visada1 ligoje
FDXRferredoxin reductaseVisada1 ligoje
FGF12fibroblast growth factor 12Visada1 ligoje
GAD1glutamate decarboxylase 1Visada1 ligoje
GTPBP2GTP binding protein 2Visada1 ligoje
INPP4Ainositol polyphosphate-4-phosphatase type I AVisada1 ligoje
JKAMPJNK1/MAPK8 associated membrane proteinVisada1 ligoje
LARGE1LARGE xylosyl- and glucuronyltransferase 1Visada2 ligose
MCCC1methylcrotonyl-CoA carboxylase subunit 1Visada1 ligoje
MECP2methyl-CpG binding protein 2Visada1 ligoje
MED23mediator complex subunit 23Visada1 ligoje
MRAPmelanocortin 2 receptor accessory proteinVisada1 ligoje
NAPBNSF attachment protein betaVisada1 ligoje
NDE1nudE neurodevelopment protein 1Visada1 ligoje
NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPaseVisada1 ligoje
NUP133nucleoporin 133Visada1 ligoje
PIGAphosphatidylinositol glycan anchor biosynthesis class AVisada1 ligoje
PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)Visada1 ligoje
PRUNE1prune exopolyphosphatase 1Visada1 ligoje
RNF113Aring finger protein 113AVisada1 ligoje
RNF13ring finger protein 13Visada2 ligose
RNU2-2RNA, U2 small nuclear 2Visada1 ligoje
SCN1Asodium voltage-gated channel alpha subunit 1Visada1 ligoje
SPTAN1spectrin alpha, non-erythrocytic 1Visada1 ligoje
STRA6signaling receptor and transporter of retinol STRA6Visada1 ligoje
STXBP1syntaxin binding protein 1Visada1 ligoje
SYNJ1synaptojanin 1Visada1 ligoje
Rodyti dar 77 genų
GenasKaip dažnai pasireiškiaLigos
TBCKTBC1 domain containing kinaseVisada1 ligoje
THAP11THAP domain containing 11Visada1 ligoje
TRAPPC4trafficking protein particle complex subunit 4Visada1 ligoje
UBTFupstream binding transcription factorVisada2 ligose
WASHC4WASH complex subunit 4Visada1 ligoje
WDR45BWD repeat domain 45BVisada1 ligoje
ADARadenosine deaminase RNA specificLabai dažnai (80–99%)1 ligoje
AP1S2adaptor related protein complex 1 subunit sigma 2Labai dažnai (80–99%)2 ligose
ATP6V0A2ATPase H+ transporting V0 subunit a2Labai dažnai (80–99%)1 ligoje
ATP6V1AATPase H+ transporting V1 subunit ALabai dažnai (80–99%)1 ligoje
ATP6V1E1ATPase H+ transporting V1 subunit E1Labai dažnai (80–99%)1 ligoje
DIAPH1diaphanous related formin 1Labai dažnai (80–99%)1 ligoje
FGFR3fibroblast growth factor receptor 3Labai dažnai (80–99%)3 ligose
IFIH1interferon induced with helicase C domain 1Labai dažnai (80–99%)1 ligoje
LSM11LSM11, U7 small nuclear RNA associatedLabai dažnai (80–99%)1 ligoje
PIGUphosphatidylinositol glycan anchor biosynthesis class ULabai dažnai (80–99%)1 ligoje
PRPS1phosphoribosyl pyrophosphate synthetase 1Labai dažnai (80–99%)1 ligoje
RNASEH2Aribonuclease H2 subunit ALabai dažnai (80–99%)1 ligoje
RNASEH2Bribonuclease H2 subunit BLabai dažnai (80–99%)1 ligoje
RNASEH2Cribonuclease H2 subunit CLabai dažnai (80–99%)1 ligoje
RNU7-1RNA, U7 small nuclear 1Labai dažnai (80–99%)1 ligoje
SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1Labai dažnai (80–99%)1 ligoje
SLC39A8solute carrier family 39 member 8Labai dažnai (80–99%)2 ligose
SLC9A6solute carrier family 9 member A6Labai dažnai (80–99%)1 ligoje
TREX1three prime repair exonuclease 1Labai dažnai (80–99%)2 ligose
ASXL3ASXL transcriptional regulator 3Dažnai (30–79%)1 ligoje
CLIC2CLIC family member 2Dažnai (30–79%)1 ligoje
DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatoryDažnai (30–79%)1 ligoje
EMC1ER membrane protein complex subunit 1Dažnai (30–79%)1 ligoje
EXOSC5exosome component 5Dažnai (30–79%)1 ligoje
KCNJ6potassium inwardly rectifying channel subfamily J member 6Dažnai (30–79%)1 ligoje
LONP1lon peptidase 1, mitochondrialDažnai (30–79%)1 ligoje
NACC1nucleus accumbens associated 1Dažnai (30–79%)1 ligoje
NGLY1N-glycanase 1Dažnai (30–79%)1 ligoje
PDHA1pyruvate dehydrogenase E1 subunit alpha 1Dažnai (30–79%)1 ligoje
PUS3pseudouridine synthase 3Dažnai (30–79%)2 ligose
SCN8Asodium voltage-gated channel alpha subunit 8Dažnai (30–79%)1 ligoje
SETD1BSET domain containing 1B, histone lysine methyltransferaseDažnai (30–79%)1 ligoje
SLC1A2solute carrier family 1 member 2Dažnai (30–79%)1 ligoje
TBC1D20TBC1 domain family member 20Dažnai (30–79%)1 ligoje
TBCDtubulin folding cofactor DDažnai (30–79%)1 ligoje
UNC13Aunc-13 homolog ADažnai (30–79%)1 ligoje
DPYDdihydropyrimidine dehydrogenaseKartais (5–29%)1 ligoje
GRIN1glutamate ionotropic receptor NMDA type subunit 1Kartais (5–29%)1 ligoje
PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1Kartais (5–29%)1 ligoje
PCDH19protocadherin 19Kartais (5–29%)1 ligoje
WARS2tryptophanyl tRNA synthetase 2, mitochondrialKartais (5–29%)1 ligoje
CHD8chromodomain helicase DNA binding protein 8Retai (1–4 %)1 ligoje
SMSspermine synthaseRetai (1–4 %)1 ligoje
AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2Neužfiksuota1 ligoje
BUB1BBUB1 mitotic checkpoint serine/threonine kinase BNeužfiksuota1 ligoje
CDKL5cyclin dependent kinase like 5Neužfiksuota1 ligoje
CRPPACDP-L-ribitol pyrophosphorylase ANeužfiksuota1 ligoje
ERCC6ERCC excision repair 6, chromatin remodeling factorNeužfiksuota1 ligoje
FHfumarate hydrataseNeužfiksuota1 ligoje
FKRPfukutin related proteinNeužfiksuota2 ligose
FKTNfukutinNeužfiksuota1 ligoje
GUF1GTP binding elongation factor GUF1Neužfiksuota1 ligoje
HSPD1heat shock protein family D (Hsp60) member 1Neužfiksuota1 ligoje
IDSiduronate 2-sulfataseNeužfiksuota1 ligoje
IER3IP1immediate early response 3 interacting protein 1Neužfiksuota1 ligoje
OCLNoccludinNeužfiksuota1 ligoje
OFD1OFD1 centriole and centriolar satellite proteinNeužfiksuota1 ligoje
PCDH12protocadherin 12Neužfiksuota1 ligoje
PIGPphosphatidylinositol glycan anchor biosynthesis class PNeužfiksuota1 ligoje
PIK3R2phosphoinositide-3-kinase regulatory subunit 2Neužfiksuota1 ligoje
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)Neužfiksuota1 ligoje
POMT1protein O-mannosyltransferase 1Neužfiksuota1 ligoje
POMT2protein O-mannosyltransferase 2Neužfiksuota2 ligose
RAB18RAB18, member RAS oncogene familyNeužfiksuota1 ligoje
SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthaseNeužfiksuota1 ligoje
ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3Neužfiksuota1 ligoje
UGP2UDP-glucose pyrophosphorylase 2Neužfiksuota1 ligoje
UNC80unc-80 subunit of NALCN channel complexNeužfiksuota1 ligoje
VARS1valyl-tRNA synthetase 1Neužfiksuota1 ligoje
VPS53VPS53 subunit of GARP complexNeužfiksuota1 ligoje
ZNHIT3zinc finger HIT-type containing 3Neužfiksuota1 ligoje

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Platesni požymiai

Intellectual disability

Iš kur tai žinoma

  • Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
  • Duomenų leidimas 2026.10.19-9814e911.

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