형질
IQ less than 20
임상 명칭: 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.
요약
- 다른 명칭
- Intellectual disability, profound
이 페이지의 데이터
페이지 주소 끝에 .json을 붙이거나 application/json을 요청하면 JSON 형식으로 읽을 수 있습니다.
library(jsonlite)
url <- "https://dantelabs.com/traits/profound-intellectual-disability.json"
page <- fromJSON(url)
page$trait$name67 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.
- Aicardi-Goutieres SyndromeReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Epilepsy (Full Panel)Reads 24 of these genesADAM22ARV1DMXL2FGF12GAD1MECP2About this report →
- Congenital Muscular DystrophiesReads 8 of these genesLARGE1DPM3CRPPAFKRPFKTNPOMGNT1About this report →
- Rare Monogenic Autoinflammatory DiseasesReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
Show 63 more reports
- Congenital Disorders of GlycosylationReads 13 of these genesDHRSXPIGAPIGGATP6V0A2SLC39A8DPM3About this report →
- Other Inherited LeukodystrophiesReads 10 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Christianson SyndromeReads 1 of these genesSLC9A6About this report →
- DIAPH1-Related Microcephaly, Seizures and Cortical BlindnessReads 1 of these genesDIAPH1About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- Jaberi-Elahi SyndromeReads 1 of these genesGTPBP2About this report →
- Mucopolysaccharidosis Type II (Hunter Syndrome)Reads 1 of these genesIDSAbout this report →
- NDE1-Related MicrolissencephalyReads 1 of these genesNDE1About this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- TRAPPC4-Related Neurodevelopmental DisorderReads 1 of these genesTRAPPC4About this report →
- UBTF-Related NeuroregressionReads 1 of these genesUBTFAbout this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- VARS1-Related Neurodevelopmental DisorderReads 1 of these genesVARS1About this report →
- Inherited Neurodegenerative DisordersReads 17 of these genesELOVL4SPTAN1TBCKADARIFIH1RNASEH2AAbout this report →
- Intellectual DisabilityReads 13 of these genesASXL1MECP2MED23PIGGWASHC4AP1S2About this report →
- Lissencephaly Spectrum DisordersReads 4 of these genesNDE1TBC1D20PAFAH1B1RAB18About this report →
- Cutis LaxaReads 3 of these genesATP6V0A2ATP6V1AATP6V1E1About this report →
- Purine & Pyrimidine Metabolism DisordersReads 2 of these genesPRPS1DPYDAbout this report →
- GPI Anchor Biosynthesis DefectsReads 3 of these genesPIGAPIGGPIGPAbout this report →
- Type I InterferonopathiesReads 2 of these genesIFIH1TREX1About this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Stargardt DiseaseReads 1 of these genesELOVL4About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 3 of these genesSTRA6TBC1D20RAB18About this report →
- Other Inborn Errors of ImmunityReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Limb-Girdle Muscular DystrophyReads 3 of these genesFKRPFKTNPOMGNT1About this report →
- Moyamoya DiseaseReads 1 of these genesSAMHD1About this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesBUB1BAbout this report →
- MTOR Pathway Megalencephaly and Overgrowth DisordersReads 1 of these genesPIK3R2About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 2 of these genesSEPSECSVPS53About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 2 of these genesTBCKAP1S2About this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 2 of these genesAIMP2HSPD1About this report →
- Spinal Muscular AtrophyReads 2 of these genesSPTAN1SEPSECSAbout this report →
- Classic Organic AciduriasReads 1 of these genesMCCC1About this report →
- Familial Glucocorticoid DeficiencyReads 1 of these genesMRAPAbout this report →
- Osteogenesis ImperfectaReads 2 of these genesATP6V0A2IFIH1About this report →
- Autism Spectrum DisorderReads 1 of these genesCHD8About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesEMC1About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHA1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 5 of these genesFDXRSPTAN1PRPS1PDHA1FHAbout this report →
- Urea Cycle DisorderReads 1 of these genesMCCC1About this report →
- Parkinson DiseaseReads 1 of these genesSYNJ1About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesSPTAN1HSPD1About this report →
- Charcot-Marie-Tooth DiseaseReads 2 of these genesSPTAN1PRPS1About this report →
- Retinitis PigmentosaReads 2 of these genesOFD1POMGNT1About this report →
- Autoimmune DiseaseReads 1 of these genesTREX1About this report →
- Syndromic CraniosynostosisReads 1 of these genesFGFR3About this report →
- Hearing Loss and DeafnessReads 2 of these genesDIAPH1PRPS1About this report →
- Nephrotic SyndromeReads 1 of these genesNUP133About this report →
- Inherited ThrombocytopeniasReads 1 of these genesDIAPH1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesELOVL4About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesWARS2About this report →
- Joubert Syndrome And Related DisordersReads 1 of these genesOFD1About this report →
- DNA Repair DiseaseReads 1 of these genesERCC6About this report →
- Dilated CardiomyopathyReads 1 of these genesFKTNAbout this report →
- Lysosomal Storage DiseaseReads 1 of these genesIDSAbout this report →
- Leigh SyndromeReads 1 of these genesPDHA1About this report →
연관 유전자 117개: IQ less than 20
이 유전자들의 변화는 IQ less than 20 증상이 나타나는 희귀 질환을 일으킵니다. 이 형질을 가진 대부분의 사람에게는 이러한 질환이 없으며, 이 목록에 있는 유전자가 누구의 개인 유전체에 대해서도 말해 주는 것은 없습니다.
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | 항상 | 질환 1개에서 나타남 |
| ARV1ARV1 fatty acid homeostasis modulator | 항상 | 질환 1개에서 나타남 |
| ASXL1ASXL transcriptional regulator 1 | 항상 | 질환 2개에서 나타남 |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | 항상 | 질환 1개에서 나타남 |
| ATP6V0CATPase H+ transporting V0 subunit c | 항상 | 질환 1개에서 나타남 |
| ATXN7L3ataxin 7 like 3 | 항상 | 질환 1개에서 나타남 |
| BORCS8BLOC-1 related complex subunit 8 | 항상 | 질환 1개에서 나타남 |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | 항상 | 질환 1개에서 나타남 |
| CCDC88Acoiled-coil and HOOK domain protein 88A | 항상 | 질환 1개에서 나타남 |
| DHRSXdehydrogenase/reductase X-linked | 항상 | 질환 1개에서 나타남 |
| DMXL2Dmx like 2 | 항상 | 질환 1개에서 나타남 |
| DPH5diphthamide biosynthesis 5 | 항상 | 질환 1개에서 나타남 |
| ELOVL4ELOVL fatty acid elongase 4 | 항상 | 질환 1개에서 나타남 |
| FAR1fatty acyl-CoA reductase 1 | 항상 | 질환 1개에서 나타남 |
| FDXRferredoxin reductase | 항상 | 질환 1개에서 나타남 |
| FGF12fibroblast growth factor 12 | 항상 | 질환 1개에서 나타남 |
| GAD1glutamate decarboxylase 1 | 항상 | 질환 1개에서 나타남 |
| GTPBP2GTP binding protein 2 | 항상 | 질환 1개에서 나타남 |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | 항상 | 질환 1개에서 나타남 |
| JKAMPJNK1/MAPK8 associated membrane protein | 항상 | 질환 1개에서 나타남 |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | 항상 | 질환 2개에서 나타남 |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | 항상 | 질환 1개에서 나타남 |
| MECP2methyl-CpG binding protein 2 | 항상 | 질환 1개에서 나타남 |
| MED23mediator complex subunit 23 | 항상 | 질환 1개에서 나타남 |
| MRAPmelanocortin 2 receptor accessory protein | 항상 | 질환 1개에서 나타남 |
| NAPBNSF attachment protein beta | 항상 | 질환 1개에서 나타남 |
| NDE1nudE neurodevelopment protein 1 | 항상 | 질환 1개에서 나타남 |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | 항상 | 질환 1개에서 나타남 |
| NUP133nucleoporin 133 | 항상 | 질환 1개에서 나타남 |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | 항상 | 질환 1개에서 나타남 |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | 항상 | 질환 1개에서 나타남 |
| PRUNE1prune exopolyphosphatase 1 | 항상 | 질환 1개에서 나타남 |
| RNF113Aring finger protein 113A | 항상 | 질환 1개에서 나타남 |
| RNF13ring finger protein 13 | 항상 | 질환 2개에서 나타남 |
| RNU2-2RNA, U2 small nuclear 2 | 항상 | 질환 1개에서 나타남 |
| SCN1Asodium voltage-gated channel alpha subunit 1 | 항상 | 질환 1개에서 나타남 |
| SPTAN1spectrin alpha, non-erythrocytic 1 | 항상 | 질환 1개에서 나타남 |
| STRA6signaling receptor and transporter of retinol STRA6 | 항상 | 질환 1개에서 나타남 |
| STXBP1syntaxin binding protein 1 | 항상 | 질환 1개에서 나타남 |
| SYNJ1synaptojanin 1 | 항상 | 질환 1개에서 나타남 |
유전자 77개 더 보기
| 유전자 | 나타나는 빈도 | 질환 |
|---|---|---|
| TBCKTBC1 domain containing kinase | 항상 | 질환 1개에서 나타남 |
| THAP11THAP domain containing 11 | 항상 | 질환 1개에서 나타남 |
| TRAPPC4trafficking protein particle complex subunit 4 | 항상 | 질환 1개에서 나타남 |
| UBTFupstream binding transcription factor | 항상 | 질환 2개에서 나타남 |
| WASHC4WASH complex subunit 4 | 항상 | 질환 1개에서 나타남 |
| WDR45BWD repeat domain 45B | 항상 | 질환 1개에서 나타남 |
| ADARadenosine deaminase RNA specific | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| ATP6V1AATPase H+ transporting V1 subunit A | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| DIAPH1diaphanous related formin 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| FGFR3fibroblast growth factor receptor 3 | 매우 자주 (80–99%) | 질환 3개에서 나타남 |
| IFIH1interferon induced with helicase C domain 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| LSM11LSM11, U7 small nuclear RNA associated | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| RNASEH2Aribonuclease H2 subunit A | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| RNASEH2Bribonuclease H2 subunit B | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| RNASEH2Cribonuclease H2 subunit C | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| RNU7-1RNA, U7 small nuclear 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| SLC39A8solute carrier family 39 member 8 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| SLC9A6solute carrier family 9 member A6 | 매우 자주 (80–99%) | 질환 1개에서 나타남 |
| TREX1three prime repair exonuclease 1 | 매우 자주 (80–99%) | 질환 2개에서 나타남 |
| ASXL3ASXL transcriptional regulator 3 | 자주 (30–79%) | 질환 1개에서 나타남 |
| CLIC2CLIC family member 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | 자주 (30–79%) | 질환 1개에서 나타남 |
| EMC1ER membrane protein complex subunit 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| EXOSC5exosome component 5 | 자주 (30–79%) | 질환 1개에서 나타남 |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | 자주 (30–79%) | 질환 1개에서 나타남 |
| LONP1lon peptidase 1, mitochondrial | 자주 (30–79%) | 질환 1개에서 나타남 |
| NACC1nucleus accumbens associated 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| NGLY1N-glycanase 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | 자주 (30–79%) | 질환 1개에서 나타남 |
| PUS3pseudouridine synthase 3 | 자주 (30–79%) | 질환 2개에서 나타남 |
| SCN8Asodium voltage-gated channel alpha subunit 8 | 자주 (30–79%) | 질환 1개에서 나타남 |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | 자주 (30–79%) | 질환 1개에서 나타남 |
| SLC1A2solute carrier family 1 member 2 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TBC1D20TBC1 domain family member 20 | 자주 (30–79%) | 질환 1개에서 나타남 |
| TBCDtubulin folding cofactor D | 자주 (30–79%) | 질환 1개에서 나타남 |
| UNC13Aunc-13 homolog A | 자주 (30–79%) | 질환 1개에서 나타남 |
| DPYDdihydropyrimidine dehydrogenase | 가끔 (5–29%) | 질환 1개에서 나타남 |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| PCDH19protocadherin 19 | 가끔 (5–29%) | 질환 1개에서 나타남 |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | 가끔 (5–29%) | 질환 1개에서 나타남 |
| CHD8chromodomain helicase DNA binding protein 8 | 드물게 (1–4%) | 질환 1개에서 나타남 |
| SMSspermine synthase | 드물게 (1–4%) | 질환 1개에서 나타남 |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | 기록되지 않음 | 질환 1개에서 나타남 |
| CDKL5cyclin dependent kinase like 5 | 기록되지 않음 | 질환 1개에서 나타남 |
| CRPPACDP-L-ribitol pyrophosphorylase A | 기록되지 않음 | 질환 1개에서 나타남 |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | 기록되지 않음 | 질환 1개에서 나타남 |
| FHfumarate hydratase | 기록되지 않음 | 질환 1개에서 나타남 |
| FKRPfukutin related protein | 기록되지 않음 | 질환 2개에서 나타남 |
| FKTNfukutin | 기록되지 않음 | 질환 1개에서 나타남 |
| GUF1GTP binding elongation factor GUF1 | 기록되지 않음 | 질환 1개에서 나타남 |
| HSPD1heat shock protein family D (Hsp60) member 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| IDSiduronate 2-sulfatase | 기록되지 않음 | 질환 1개에서 나타남 |
| IER3IP1immediate early response 3 interacting protein 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| OCLNoccludin | 기록되지 않음 | 질환 1개에서 나타남 |
| OFD1OFD1 centriole and centriolar satellite protein | 기록되지 않음 | 질환 1개에서 나타남 |
| PCDH12protocadherin 12 | 기록되지 않음 | 질환 1개에서 나타남 |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | 기록되지 않음 | 질환 1개에서 나타남 |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 기록되지 않음 | 질환 1개에서 나타남 |
| POMT1protein O-mannosyltransferase 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| POMT2protein O-mannosyltransferase 2 | 기록되지 않음 | 질환 2개에서 나타남 |
| RAB18RAB18, member RAS oncogene family | 기록되지 않음 | 질환 1개에서 나타남 |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | 기록되지 않음 | 질환 1개에서 나타남 |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | 기록되지 않음 | 질환 1개에서 나타남 |
| UGP2UDP-glucose pyrophosphorylase 2 | 기록되지 않음 | 질환 1개에서 나타남 |
| UNC80unc-80 subunit of NALCN channel complex | 기록되지 않음 | 질환 1개에서 나타남 |
| VARS1valyl-tRNA synthetase 1 | 기록되지 않음 | 질환 1개에서 나타남 |
| VPS53VPS53 subunit of GARP complex | 기록되지 않음 | 질환 1개에서 나타남 |
| ZNHIT3zinc finger HIT-type containing 3 | 기록되지 않음 | 질환 1개에서 나타남 |
Human Phenotype Ontology가 기록한, 해당 유전자와 관련된 질환을 가진 사람들 가운데 이 특징이 나타나는 빈도입니다. 이 페이지는 특징과 그 바탕이 되는 연구를 설명하며, 진단이 아닙니다. 증상에 대해서는 의사나 유전 상담사에게 문의하시기 바랍니다.
상위 형질
출처
- Human Phenotype Ontology, 버전 2026-09-01: 특징, 명칭, 정의 및 이와 연결된 유전자입니다. 자세한 내용은 hpo.jax.org에서 확인하실 수 있습니다.
- 데이터 버전 2026.10.19-9814e911.
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