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Özellik
IQ less than 20
Klinik adı: 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.
Özet
- Diğer adları
- Intellectual disability, profound
- Vücut sistemi
- Abnormality of the nervous system
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
Bu sayfanın veri olarak görünümü
Veriyi JSON olarak okumak için sayfa adresinin sonuna .json ekleyin veya application/json isteyin.
library(jsonlite)
url <- "https://dantelabs.com/traits/profound-intellectual-disability.json"
page <- fromJSON(url)
page$trait$nameIQ less than 20HP:0002187
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
IQ less than 20 ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi al67 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 →
IQ less than 20 ile bağlantılı genleri ve genomunuzun geri kalanını tek bir testle okuyun.
$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde
Genome Test'imi alIQ less than 20 ile ilişkili 117 gen
Bu genlerdeki değişiklikler, IQ less than 20 özelliğinin görüldüğü nadir durumlara yol açar. Bu özelliğe sahip çoğu kişide bu durumlardan hiçbiri yoktur; ayrıca bu listedeki bir gen, kimsenin kendi genomu hakkında bir şey söylemez.
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| ADAM22ADAM metallopeptidase domain 22 | Her zaman | 1 durumda |
| ARV1ARV1 fatty acid homeostasis modulator | Her zaman | 1 durumda |
| ASXL1ASXL transcriptional regulator 1 | Her zaman | 2 durumda |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Her zaman | 1 durumda |
| ATP6V0CATPase H+ transporting V0 subunit c | Her zaman | 1 durumda |
| ATXN7L3ataxin 7 like 3 | Her zaman | 1 durumda |
| BORCS8BLOC-1 related complex subunit 8 | Her zaman | 1 durumda |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Her zaman | 1 durumda |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Her zaman | 1 durumda |
| DHRSXdehydrogenase/reductase X-linked | Her zaman | 1 durumda |
| DMXL2Dmx like 2 | Her zaman | 1 durumda |
| DPH5diphthamide biosynthesis 5 | Her zaman | 1 durumda |
| ELOVL4ELOVL fatty acid elongase 4 | Her zaman | 1 durumda |
| FAR1fatty acyl-CoA reductase 1 | Her zaman | 1 durumda |
| FDXRferredoxin reductase | Her zaman | 1 durumda |
| FGF12fibroblast growth factor 12 | Her zaman | 1 durumda |
| GAD1glutamate decarboxylase 1 | Her zaman | 1 durumda |
| GTPBP2GTP binding protein 2 | Her zaman | 1 durumda |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Her zaman | 1 durumda |
| JKAMPJNK1/MAPK8 associated membrane protein | Her zaman | 1 durumda |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Her zaman | 2 durumda |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Her zaman | 1 durumda |
| MECP2methyl-CpG binding protein 2 | Her zaman | 1 durumda |
| MED23mediator complex subunit 23 | Her zaman | 1 durumda |
| MRAPmelanocortin 2 receptor accessory protein | Her zaman | 1 durumda |
| NAPBNSF attachment protein beta | Her zaman | 1 durumda |
| NDE1nudE neurodevelopment protein 1 | Her zaman | 1 durumda |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Her zaman | 1 durumda |
| NUP133nucleoporin 133 | Her zaman | 1 durumda |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Her zaman | 1 durumda |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Her zaman | 1 durumda |
| PRUNE1prune exopolyphosphatase 1 | Her zaman | 1 durumda |
| RNF113Aring finger protein 113A | Her zaman | 1 durumda |
| RNF13ring finger protein 13 | Her zaman | 2 durumda |
| RNU2-2RNA, U2 small nuclear 2 | Her zaman | 1 durumda |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Her zaman | 1 durumda |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Her zaman | 1 durumda |
| STRA6signaling receptor and transporter of retinol STRA6 | Her zaman | 1 durumda |
| STXBP1syntaxin binding protein 1 | Her zaman | 1 durumda |
| SYNJ1synaptojanin 1 | Her zaman | 1 durumda |
77 gen daha göster
| Gen | Ne sıklıkla görüldüğü | Durumlar |
|---|---|---|
| TBCKTBC1 domain containing kinase | Her zaman | 1 durumda |
| THAP11THAP domain containing 11 | Her zaman | 1 durumda |
| TRAPPC4trafficking protein particle complex subunit 4 | Her zaman | 1 durumda |
| UBTFupstream binding transcription factor | Her zaman | 2 durumda |
| WASHC4WASH complex subunit 4 | Her zaman | 1 durumda |
| WDR45BWD repeat domain 45B | Her zaman | 1 durumda |
| ADARadenosine deaminase RNA specific | Çok sık (%80–99) | 1 durumda |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Çok sık (%80–99) | 2 durumda |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Çok sık (%80–99) | 1 durumda |
| ATP6V1AATPase H+ transporting V1 subunit A | Çok sık (%80–99) | 1 durumda |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Çok sık (%80–99) | 1 durumda |
| DIAPH1diaphanous related formin 1 | Çok sık (%80–99) | 1 durumda |
| FGFR3fibroblast growth factor receptor 3 | Çok sık (%80–99) | 3 durumda |
| IFIH1interferon induced with helicase C domain 1 | Çok sık (%80–99) | 1 durumda |
| LSM11LSM11, U7 small nuclear RNA associated | Çok sık (%80–99) | 1 durumda |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Çok sık (%80–99) | 1 durumda |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Çok sık (%80–99) | 1 durumda |
| RNASEH2Aribonuclease H2 subunit A | Çok sık (%80–99) | 1 durumda |
| RNASEH2Bribonuclease H2 subunit B | Çok sık (%80–99) | 1 durumda |
| RNASEH2Cribonuclease H2 subunit C | Çok sık (%80–99) | 1 durumda |
| RNU7-1RNA, U7 small nuclear 1 | Çok sık (%80–99) | 1 durumda |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Çok sık (%80–99) | 1 durumda |
| SLC39A8solute carrier family 39 member 8 | Çok sık (%80–99) | 2 durumda |
| SLC9A6solute carrier family 9 member A6 | Çok sık (%80–99) | 1 durumda |
| TREX1three prime repair exonuclease 1 | Çok sık (%80–99) | 2 durumda |
| ASXL3ASXL transcriptional regulator 3 | Sık (%30–79) | 1 durumda |
| CLIC2CLIC family member 2 | Sık (%30–79) | 1 durumda |
| DPM3dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Sık (%30–79) | 1 durumda |
| EMC1ER membrane protein complex subunit 1 | Sık (%30–79) | 1 durumda |
| EXOSC5exosome component 5 | Sık (%30–79) | 1 durumda |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Sık (%30–79) | 1 durumda |
| LONP1lon peptidase 1, mitochondrial | Sık (%30–79) | 1 durumda |
| NACC1nucleus accumbens associated 1 | Sık (%30–79) | 1 durumda |
| NGLY1N-glycanase 1 | Sık (%30–79) | 1 durumda |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Sık (%30–79) | 1 durumda |
| PUS3pseudouridine synthase 3 | Sık (%30–79) | 2 durumda |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sık (%30–79) | 1 durumda |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Sık (%30–79) | 1 durumda |
| SLC1A2solute carrier family 1 member 2 | Sık (%30–79) | 1 durumda |
| TBC1D20TBC1 domain family member 20 | Sık (%30–79) | 1 durumda |
| TBCDtubulin folding cofactor D | Sık (%30–79) | 1 durumda |
| UNC13Aunc-13 homolog A | Sık (%30–79) | 1 durumda |
| DPYDdihydropyrimidine dehydrogenase | Bazen (%5–29) | 1 durumda |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Bazen (%5–29) | 1 durumda |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Bazen (%5–29) | 1 durumda |
| PCDH19protocadherin 19 | Bazen (%5–29) | 1 durumda |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Bazen (%5–29) | 1 durumda |
| CHD8chromodomain helicase DNA binding protein 8 | Seyrek (%1–4) | 1 durumda |
| SMSspermine synthase | Seyrek (%1–4) | 1 durumda |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Kaydedilmedi | 1 durumda |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Kaydedilmedi | 1 durumda |
| CDKL5cyclin dependent kinase like 5 | Kaydedilmedi | 1 durumda |
| CRPPACDP-L-ribitol pyrophosphorylase A | Kaydedilmedi | 1 durumda |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Kaydedilmedi | 1 durumda |
| FHfumarate hydratase | Kaydedilmedi | 1 durumda |
| FKRPfukutin related protein | Kaydedilmedi | 2 durumda |
| FKTNfukutin | Kaydedilmedi | 1 durumda |
| GUF1GTP binding elongation factor GUF1 | Kaydedilmedi | 1 durumda |
| HSPD1heat shock protein family D (Hsp60) member 1 | Kaydedilmedi | 1 durumda |
| IDSiduronate 2-sulfatase | Kaydedilmedi | 1 durumda |
| IER3IP1immediate early response 3 interacting protein 1 | Kaydedilmedi | 1 durumda |
| OCLNoccludin | Kaydedilmedi | 1 durumda |
| OFD1OFD1 centriole and centriolar satellite protein | Kaydedilmedi | 1 durumda |
| PCDH12protocadherin 12 | Kaydedilmedi | 1 durumda |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Kaydedilmedi | 1 durumda |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Kaydedilmedi | 1 durumda |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Kaydedilmedi | 1 durumda |
| POMT1protein O-mannosyltransferase 1 | Kaydedilmedi | 1 durumda |
| POMT2protein O-mannosyltransferase 2 | Kaydedilmedi | 2 durumda |
| RAB18RAB18, member RAS oncogene family | Kaydedilmedi | 1 durumda |
| SEPSECSSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase | Kaydedilmedi | 1 durumda |
| ST3GAL3ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Kaydedilmedi | 1 durumda |
| UGP2UDP-glucose pyrophosphorylase 2 | Kaydedilmedi | 1 durumda |
| UNC80unc-80 subunit of NALCN channel complex | Kaydedilmedi | 1 durumda |
| VARS1valyl-tRNA synthetase 1 | Kaydedilmedi | 1 durumda |
| VPS53VPS53 subunit of GARP complex | Kaydedilmedi | 1 durumda |
| ZNHIT3zinc finger HIT-type containing 3 | Kaydedilmedi | 1 durumda |
Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.
Daha geniş özellikler
Bilgilerin kaynağı
- Human Phenotype Ontology, 2026-09-01 sürümü: özellik, adları, tanımı ve buna bağlı genler. Ayrıntılar için hpo.jax.org adresine bakın.
- Veri sürümü 2026.10.19-9814e911.
AtlasKimlere Yardımcı OluyoruzBilimimizÜrünlerSonuçlar
Giriş YapSorGenomunuzu dizileyin↗
From traits to your genome
Read the genes behind these traits in your own DNA.
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