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Požymis

Intellectual disability, mild

Klinikinis pavadinimas: Mild intellectual disability

Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.

HPO HP:0001256

Santrauka

Kūno sistema
Abnormality of the nervous system

196 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 192 more reports

Every condition report

Vienu tyrimu sužinokite genus, susijusius su Intellectual disability, mild, ir kitą jūsų genomo dalį.

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409 genų susiję su Intellectual disability, mild

Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Intellectual disability, mild. 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
ACTBactin betaVisada1 ligoje
AP3B1adaptor related protein complex 3 subunit beta 1Visada1 ligoje
ASCC3activating signal cointegrator 1 complex subunit 3Visada1 ligoje
ATP13A2ATPase cation transporting 13A2Visada1 ligoje
ATP6V0CATPase H+ transporting V0 subunit cVisada1 ligoje
B4GALNT1beta-1,4-N-acetyl-galactosaminyltransferase 1Visada1 ligoje
BBS10Bardet-Biedl syndrome 10Visada1 ligoje
BBS5Bardet-Biedl syndrome 5Visada1 ligoje
BRWD3bromodomain and WD repeat domain containing 3Visada1 ligoje
CA8carbonic anhydrase 8 (inactive)Visada1 ligoje
CACHD1cache domain containing 1Visada1 ligoje
CAMTA1calmodulin binding transcription activator 1Visada2 ligose
CARS1cysteinyl-tRNA synthetase 1Visada1 ligoje
CCT3chaperonin containing TCP1 subunit 3Visada1 ligoje
CDH11cadherin 11Visada1 ligoje
CDK6cyclin dependent kinase 6Visada1 ligoje
CRBNcereblonVisada1 ligoje
CSTF2cleavage stimulation factor subunit 2Visada1 ligoje
CWF19L1CWF19 like cell cycle control factor 1Visada1 ligoje
DAP3death associated protein 3Visada1 ligoje
DONSONDNA replication fork stabilization factor DONSONVisada2 ligose
DSTdystoninVisada1 ligoje
DSTYKdual serine/threonine and tyrosine protein kinaseVisada1 ligoje
EDC3enhancer of mRNA decapping 3Visada1 ligoje
EIF4A2eukaryotic translation initiation factor 4A2Visada1 ligoje
EMC10ER membrane protein complex subunit 10Visada1 ligoje
EZH2enhancer of zeste 2 polycomb repressive complex 2 subunitVisada1 ligoje
FDXRferredoxin reductaseVisada1 ligoje
FLVCR1FLVCR choline and heme transporter 1Visada1 ligoje
GINS3GINS complex subunit 3Visada1 ligoje
GON4Lgon-4 likeVisada1 ligoje
GTF2H4general transcription factor IIH subunit 4Visada1 ligoje
HNRNPCheterogeneous nuclear ribonucleoprotein CVisada1 ligoje
HSD17B4hydroxysteroid 17-beta dehydrogenase 4Visada1 ligoje
INTS11integrator complex subunit 11Visada1 ligoje
ITPR1inositol 1,4,5-trisphosphate receptor type 1Visada2 ligose
KDM6Blysine demethylase 6BVisada1 ligoje
KICS2KICSTOR subunit 2Visada1 ligoje
KLC4kinesin light chain 4Visada1 ligoje
KLHL20kelch like family member 20Visada1 ligoje
Rodyti dar 369 genų
GenasKaip dažnai pasireiškiaLigos
LRRC7leucine rich repeat containing 7Visada1 ligoje
MASP1MBL associated serine protease 1Visada1 ligoje
MCCC1methylcrotonyl-CoA carboxylase subunit 1Visada1 ligoje
MECP2methyl-CpG binding protein 2Visada2 ligose
METTL23methyltransferase 23, arginineVisada1 ligoje
MIA3MIA SH3 domain ER export factor 3Visada1 ligoje
MMADHCmetabolism of cobalamin associated DVisada1 ligoje
MTHFD1methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1Visada1 ligoje
MTSS2MTSS I-BAR domain containing 2Visada1 ligoje
NAGAalpha-N-acetylgalactosaminidaseVisada2 ligose
NIT1nitrilase 1Visada1 ligoje
NOTCH3notch receptor 3Visada1 ligoje
NR4A2nuclear receptor subfamily 4 group A member 2Visada1 ligoje
PAN2poly(A) specific ribonuclease subunit PAN2Visada1 ligoje
PDSS1decaprenyl diphosphate synthase subunit 1Visada1 ligoje
PEX11Bperoxisomal biogenesis factor 11 betaVisada1 ligoje
PHF8PHD finger protein 8Visada2 ligose
PITRM1pitrilysin metallopeptidase 1Visada1 ligoje
PSMD12proteasome 26S subunit, non-ATPase 12Visada2 ligose
RAB3ARAB3A, member RAS oncogene familyVisada1 ligoje
RAP1BRAP1B, member of RAS oncogene familyVisada1 ligoje
RARS1arginyl-tRNA synthetase 1Visada2 ligose
RC3H1ring finger and CCCH-type domains 1Visada1 ligoje
RNU4ATACRNA, U4atac small nuclearVisada2 ligose
RPS6KA3ribosomal protein S6 kinase A3Visada1 ligoje
RUBCNrubicon autophagy regulatorVisada1 ligoje
SELENOIselenoprotein IVisada2 ligose
SGSM3small G protein signaling modulator 3Visada1 ligoje
SKOR2SKI family transcriptional corepressor 2Visada1 ligoje
SLC18A2solute carrier family 18 member A2Visada1 ligoje
SLC25A36solute carrier family 25 member 36Visada1 ligoje
SLC25A4solute carrier family 25 member 4Visada1 ligoje
SOX11SRY-box transcription factor 11Visada1 ligoje
SPARTspartinVisada1 ligoje
SPRED2sprouty related EVH1 domain containing 2Visada1 ligoje
SUFUSUFU negative regulator of hedgehog signalingVisada1 ligoje
TAF13TATA-box binding protein associated factor 13Visada1 ligoje
TAF4TATA-box binding protein associated factor 4Visada1 ligoje
TBC1D7TBC1 domain family member 7Visada1 ligoje
TCF20transcription factor 20Visada1 ligoje
TCP1t-complex 1Visada1 ligoje
TIMM8Atranslocase of inner mitochondrial membrane 8AVisada1 ligoje
TMEM63Ctransmembrane protein 63CVisada1 ligoje
UBR5ubiquitin protein ligase E3 component n-recognin 5Visada1 ligoje
UNC13Aunc-13 homolog AVisada1 ligoje
UPF3BUPF3B regulator of nonsense mediated mRNA decayVisada1 ligoje
YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zetaVisada1 ligoje
ZMYND11zinc finger MYND-type containing 11Visada1 ligoje
AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferaseLabai dažnai (80–99%)1 ligoje
ALX4ALX homeobox 4Labai dažnai (80–99%)1 ligoje
ARID1BAT-rich interaction domain 1BLabai dažnai (80–99%)1 ligoje
BPTFbromodomain PHD finger transcription factorLabai dažnai (80–99%)1 ligoje
CPLX1complexin 1Labai dažnai (80–99%)1 ligoje
CTDP1CTD phosphatase 1Labai dažnai (80–99%)1 ligoje
DCAF17DDB1 and CUL4 associated factor 17Labai dažnai (80–99%)1 ligoje
DLK1delta like non-canonical Notch ligand 1Labai dažnai (80–99%)1 ligoje
DPYDdihydropyrimidine dehydrogenaseLabai dažnai (80–99%)1 ligoje
ERMARDER membrane associated RNA degradationLabai dažnai (80–99%)1 ligoje
FLNAfilamin ALabai dažnai (80–99%)3 ligose
FMR1fragile X messenger ribonucleoprotein 1Labai dažnai (80–99%)1 ligoje
GATA4GATA binding protein 4Labai dažnai (80–99%)1 ligoje
GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinaseLabai dažnai (80–99%)2 ligose
HMGA2high mobility group AT-hook 2Labai dažnai (80–99%)1 ligoje
HPRT1hypoxanthine phosphoribosyltransferase 1Labai dažnai (80–99%)1 ligoje
IGF1insulin like growth factor 1Labai dažnai (80–99%)1 ligoje
LEMD3LEM domain containing 3Labai dažnai (80–99%)1 ligoje
MAN2B1mannosidase alpha class 2B member 1Labai dažnai (80–99%)2 ligose
MEG3maternally expressed 3Labai dažnai (80–99%)1 ligoje
PLP1proteolipid protein 1Labai dažnai (80–99%)2 ligose
POLA1DNA polymerase alpha 1, catalytic subunitLabai dažnai (80–99%)1 ligoje
POU4F1POU class 4 homeobox 1Labai dažnai (80–99%)1 ligoje
PPP2R3Cprotein phosphatase 2 regulatory subunit B''gammaLabai dažnai (80–99%)1 ligoje
PQBP1polyglutamine binding protein 1Labai dažnai (80–99%)2 ligose
RAI1retinoic acid induced 1Labai dažnai (80–99%)2 ligose
RTL1retrotransposon Gag like 1Labai dažnai (80–99%)1 ligoje
SCN8Asodium voltage-gated channel alpha subunit 8Labai dažnai (80–99%)2 ligose
SIN3ASIN3 transcription regulator family member ALabai dažnai (80–99%)2 ligose
SIN3BSIN3 transcription regulator family member BLabai dažnai (80–99%)1 ligoje
SPG11SPG11 vesicle trafficking associated, spatacsinLabai dažnai (80–99%)1 ligoje
SRRM2serine/arginine repetitive matrix 2Labai dažnai (80–99%)1 ligoje
TBC1D24TBC1 domain family member 24Labai dažnai (80–99%)1 ligoje
TRIOtrio Rho guanine nucleotide exchange factorLabai dažnai (80–99%)1 ligoje
WACWW domain containing adaptor with coiled-coilLabai dažnai (80–99%)1 ligoje
WDR11WD repeat domain 11Labai dažnai (80–99%)1 ligoje
ZC4H2zinc finger C4H2-type containingLabai dažnai (80–99%)2 ligose
AASSaminoadipate-semialdehyde synthaseDažnai (30–79%)2 ligose
ABCA2ATP binding cassette subfamily A member 2Dažnai (30–79%)1 ligoje
ABCC9ATP binding cassette subfamily C member 9Dažnai (30–79%)2 ligose
ACP5acid phosphatase 5, tartrate resistantDažnai (30–79%)1 ligoje
ADAMTSL2ADAMTS like 2Dažnai (30–79%)1 ligoje
ADARadenosine deaminase RNA specificDažnai (30–79%)1 ligoje
AFG3L2AFG3 like matrix AAA peptidase subunit 2Dažnai (30–79%)2 ligose
ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferaseDažnai (30–79%)1 ligoje
AMER1APC membrane recruitment protein 1Dažnai (30–79%)1 ligoje
AP5Z1adaptor related protein complex 5 subunit zeta 1Dažnai (30–79%)1 ligoje
APCAPC regulator of Wnt signaling pathwayDažnai (30–79%)1 ligoje
APC2APC regulator of Wnt signaling pathway 2Dažnai (30–79%)1 ligoje
ARVCFARVCF delta catenin family memberDažnai (30–79%)1 ligoje
ARXaristaless related homeoboxDažnai (30–79%)1 ligoje
ATP6AP1ATPase H+ transporting accessory protein 1Dažnai (30–79%)1 ligoje
ATP9AATPase phospholipid transporting 9ADažnai (30–79%)1 ligoje
BCORBCL6 corepressorDažnai (30–79%)1 ligoje
BRF1BRF1 general transcription factor IIIB subunitDažnai (30–79%)1 ligoje
CD274CD274 moleculeDažnai (30–79%)1 ligoje
CHD8chromodomain helicase DNA binding protein 8Dažnai (30–79%)1 ligoje
COG1component of oligomeric golgi complex 1Dažnai (30–79%)1 ligoje
COMTcatechol-O-methyltransferaseDažnai (30–79%)1 ligoje
CSTBcystatin BDažnai (30–79%)1 ligoje
CUL3cullin 3Dažnai (30–79%)1 ligoje
DARS1aspartyl-tRNA synthetase 1Dažnai (30–79%)1 ligoje
DNAJC12DnaJ heat shock protein family (Hsp40) member C12Dažnai (30–79%)1 ligoje
DNAJC19DnaJ heat shock protein family (Hsp40) member C19Dažnai (30–79%)1 ligoje
EIF2B4eukaryotic translation initiation factor 2B subunit deltaDažnai (30–79%)1 ligoje
EP300EP300 lysine acetyltransferaseDažnai (30–79%)1 ligoje
ERCC6ERCC excision repair 6, chromatin remodeling factorDažnai (30–79%)1 ligoje
ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunitDažnai (30–79%)1 ligoje
EXOSC2exosome component 2Dažnai (30–79%)1 ligoje
EXT2exostosin glycosyltransferase 2Dažnai (30–79%)1 ligoje
FAT4FAT atypical cadherin 4Dažnai (30–79%)1 ligoje
FGFR2fibroblast growth factor receptor 2Dažnai (30–79%)1 ligoje
FREM1FRAS1 related extracellular matrix 1Dažnai (30–79%)1 ligoje
GALTgalactose-1-phosphate uridylyltransferaseDažnai (30–79%)1 ligoje
GDI1GDP dissociation inhibitor 1Dažnai (30–79%)1 ligoje
GLIS3GLIS family zinc finger 3Dažnai (30–79%)1 ligoje
GLRA2glycine receptor alpha 2Dažnai (30–79%)1 ligoje
GMPPBGDP-mannose pyrophosphorylase BDažnai (30–79%)2 ligose
GP1BBglycoprotein Ib platelet subunit betaDažnai (30–79%)1 ligoje
GPAA1glycosylphosphatidylinositol anchor attachment 1Dažnai (30–79%)1 ligoje
GPSM2G protein signaling modulator 2Dažnai (30–79%)1 ligoje
GRIK2glutamate ionotropic receptor kainate type subunit 2Dažnai (30–79%)1 ligoje
H19H19 imprinted maternally expressed transcriptDažnai (30–79%)1 ligoje
HCN4hyperpolarization activated cyclic nucleotide gated potassium channel 4Dažnai (30–79%)1 ligoje
HDAC6histone deacetylase 6Dažnai (30–79%)2 ligose
HEATR3HEAT repeat containing 3Dažnai (30–79%)1 ligoje
HIRAhistone cell cycle regulatorDažnai (30–79%)1 ligoje
HPD4-hydroxyphenylpyruvate dioxygenaseDažnai (30–79%)2 ligose
IGF2insulin like growth factor 2Dažnai (30–79%)1 ligoje
INPP5Einositol polyphosphate-5-phosphatase EDažnai (30–79%)1 ligoje
JMJD1Cjumonji domain containing 1CDažnai (30–79%)1 ligoje
KCNC3potassium voltage-gated channel subfamily C member 3Dažnai (30–79%)1 ligoje
KCNJ8potassium inwardly rectifying channel subfamily J member 8Dažnai (30–79%)1 ligoje
KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1Dažnai (30–79%)1 ligoje
KDM2Blysine demethylase 2BDažnai (30–79%)1 ligoje
KDM6Alysine demethylase 6ADažnai (30–79%)1 ligoje
KIF11kinesin family member 11Dažnai (30–79%)1 ligoje
KMT2Blysine methyltransferase 2BDažnai (30–79%)1 ligoje
KMT2Dlysine methyltransferase 2DDažnai (30–79%)1 ligoje
L1CAML1 cell adhesion moleculeDažnai (30–79%)1 ligoje
MAGEL2MAGE family member L2Dažnai (30–79%)4 ligose
MAN1B1mannosidase alpha class 1B member 1Dažnai (30–79%)1 ligoje
MARS1methionyl-tRNA synthetase 1Dažnai (30–79%)1 ligoje
MARS2methionyl-tRNA synthetase 2, mitochondrialDažnai (30–79%)1 ligoje
MAU2MAU2 sister chromatid cohesion factorDažnai (30–79%)1 ligoje
MCM3APminichromosome maintenance complex component 3 associated proteinDažnai (30–79%)1 ligoje
MECOMMDS1 and EVI1 complex locusDažnai (30–79%)1 ligoje
MGPmatrix Gla proteinDažnai (30–79%)2 ligose
MSTO1misato mitochondrial distribution and morphology regulator 1Dažnai (30–79%)2 ligose
MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6Dažnai (30–79%)1 ligoje
MTRFRmitochondrial translation release factor in rescueDažnai (30–79%)1 ligoje
MYCNMYCN proto-oncogene, bHLH transcription factorDažnai (30–79%)1 ligoje
NAA60N-alpha-acetyltransferase 60, NatF catalytic subunitDažnai (30–79%)1 ligoje
NARS2asparaginyl-tRNA synthetase 2, mitochondrialDažnai (30–79%)1 ligoje
NAV3neuron navigator 3Dažnai (30–79%)1 ligoje
NDNnecdin, MAGE family memberDažnai (30–79%)3 ligose
NGFnerve growth factorDažnai (30–79%)2 ligose
NLGN4Xneuroligin 4 X-linkedDažnai (30–79%)1 ligoje
NONOnon-POU domain containing octamer bindingDažnai (30–79%)1 ligoje
NSD1nuclear receptor binding SET domain protein 1Dažnai (30–79%)2 ligose
NTRK1neurotrophic receptor tyrosine kinase 1Dažnai (30–79%)1 ligoje
NUP54nucleoporin 54Dažnai (30–79%)1 ligoje
NUP62nucleoporin 62Dažnai (30–79%)1 ligoje
OCA2OCA2 melanosomal transmembrane proteinDažnai (30–79%)3 ligose
ORC1origin recognition complex subunit 1Dažnai (30–79%)1 ligoje
OTX2orthodenticle homeobox 2Dažnai (30–79%)1 ligoje
PCNAproliferating cell nuclear antigenDažnai (30–79%)1 ligoje
PEX10peroxisomal biogenesis factor 10Dažnai (30–79%)1 ligoje
PGAP1post-GPI attachment to proteins inositol deacylase 1Dažnai (30–79%)1 ligoje
PGAP2post-GPI attachment to proteins 2Dažnai (30–79%)1 ligoje
PIK3R1phosphoinositide-3-kinase regulatory subunit 1Dažnai (30–79%)1 ligoje
PNPLA2patatin like domain 2, triacylglycerol lipaseDažnai (30–79%)2 ligose
PNPLA6patatin like domain 6, lysophospholipaseDažnai (30–79%)1 ligoje
POGZpogo transposable element derived with ZNF domainDažnai (30–79%)1 ligoje
POLR3ARNA polymerase III subunit ADažnai (30–79%)1 ligoje
POLR3BRNA polymerase III subunit BDažnai (30–79%)1 ligoje
POU3F4POU class 3 homeobox 4Dažnai (30–79%)1 ligoje
PRMT7protein arginine methyltransferase 7Dažnai (30–79%)2 ligose
PRPS1phosphoribosyl pyrophosphate synthetase 1Dažnai (30–79%)1 ligoje
RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2Dažnai (30–79%)1 ligoje
RBPJrecombination signal binding protein for immunoglobulin kappa J regionDažnai (30–79%)1 ligoje
RBSNrabenosyn, RAB effectorDažnai (30–79%)1 ligoje
RCBTB1RCC1 and BTB domain containing protein 1Dažnai (30–79%)1 ligoje
RREB1ras responsive element binding protein 1Dažnai (30–79%)1 ligoje
RSPRY1ring finger and SPRY domain containing 1Dažnai (30–79%)1 ligoje
RTN4IP1reticulon 4 interacting protein 1Dažnai (30–79%)1 ligoje
SCO2synthesis of cytochrome C oxidase 2Dažnai (30–79%)1 ligoje
SCYL1SCY1 like pseudokinase 1Dažnai (30–79%)2 ligose
SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8Dažnai (30–79%)1 ligoje
SEC24CSEC24 homolog C, COPII componentDažnai (30–79%)1 ligoje
SETD1BSET domain containing 1B, histone lysine methyltransferaseDažnai (30–79%)1 ligoje
SFXN4sideroflexin 4Dažnai (30–79%)1 ligoje
SH2B1SH2B adaptor protein 1Dažnai (30–79%)1 ligoje
SKIC2SKI2 subunit of superkiller complexDažnai (30–79%)1 ligoje
SKIC3SKI3 subunit of superkiller complexDažnai (30–79%)1 ligoje
SLC12A6solute carrier family 12 member 6Dažnai (30–79%)1 ligoje
SLC2A1solute carrier family 2 member 1Dažnai (30–79%)2 ligose
SLC35A3solute carrier family 35 member A3Dažnai (30–79%)1 ligoje
SNRPNsmall nuclear ribonucleoprotein polypeptide NDažnai (30–79%)4 ligose
SPTBN2spectrin beta, non-erythrocytic 2Dažnai (30–79%)1 ligoje
SRCAPSnf2 related CREBBP activator proteinDažnai (30–79%)1 ligoje
TBC1D2BTBC1 domain family member 2BDažnai (30–79%)1 ligoje
TBK1TANK binding kinase 1Dažnai (30–79%)1 ligoje
TBX1T-box transcription factor 1Dažnai (30–79%)1 ligoje
THOC2THO complex subunit 2Dažnai (30–79%)1 ligoje
TKTtransketolaseDažnai (30–79%)1 ligoje
UBE3Aubiquitin protein ligase E3ADažnai (30–79%)1 ligoje
UFD1ubiquitin recognition factor in ER associated degradation 1Dažnai (30–79%)1 ligoje
VRK1VRK serine/threonine kinase 1Dažnai (30–79%)1 ligoje
WDR48WD repeat domain 48Dažnai (30–79%)1 ligoje
YY1YY1 transcription factorDažnai (30–79%)1 ligoje
ZFRzinc finger RNA binding proteinDažnai (30–79%)1 ligoje
ZFXzinc finger protein X-linkedDažnai (30–79%)1 ligoje
ZNF341zinc finger protein 341Dažnai (30–79%)1 ligoje
ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10Kartais (5–29%)2 ligose
ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17Kartais (5–29%)1 ligoje
AHDC1AT-hook DNA binding motif containing 1Kartais (5–29%)1 ligoje
ALADaminolevulinate dehydrataseKartais (5–29%)1 ligoje
AMFRautocrine motility factor receptorKartais (5–29%)1 ligoje
ANK3ankyrin 3Kartais (5–29%)1 ligoje
ANO10anoctamin 10Kartais (5–29%)1 ligoje
AP1S2adaptor related protein complex 1 subunit sigma 2Kartais (5–29%)1 ligoje
ATL1atlastin GTPase 1Kartais (5–29%)1 ligoje
BAIAP2BAR/IMD domain containing adaptor protein 2Kartais (5–29%)1 ligoje
BIN1bridging integrator 1Kartais (5–29%)2 ligose
BLMBLM RecQ like helicaseKartais (5–29%)1 ligoje
BMPR1Abone morphogenetic protein receptor type 1AKartais (5–29%)1 ligoje
BRAFB-Raf proto-oncogene, serine/threonine kinaseKartais (5–29%)1 ligoje
CDKL5cyclin dependent kinase like 5Kartais (5–29%)1 ligoje
CEP57centrosomal protein 57Kartais (5–29%)1 ligoje
CHRNA7cholinergic receptor nicotinic alpha 7 subunitKartais (5–29%)1 ligoje
COG5component of oligomeric golgi complex 5Kartais (5–29%)1 ligoje
CPAPcentrosome assembly and centriole elongation proteinKartais (5–29%)1 ligoje
CTNNB1catenin beta 1Kartais (5–29%)1 ligoje
DAG1dystroglycan 1Kartais (5–29%)1 ligoje
DCDC2doublecortin domain containing 2Kartais (5–29%)1 ligoje
DHX9DExH-box helicase 9Kartais (5–29%)1 ligoje
DNAJC3DnaJ heat shock protein family (Hsp40) member C3Kartais (5–29%)1 ligoje
DNMT3ADNA methyltransferase 3 alphaKartais (5–29%)1 ligoje
DYMdymeclinKartais (5–29%)1 ligoje
FBN1fibrillin 1Kartais (5–29%)2 ligose
FGF14fibroblast growth factor 14Kartais (5–29%)1 ligoje
FKRPfukutin related proteinKartais (5–29%)1 ligoje
FOXP1forkhead box P1Kartais (5–29%)1 ligoje
FZD4frizzled class receptor 4Kartais (5–29%)1 ligoje
GABBR2gamma-aminobutyric acid type B receptor subunit 2Kartais (5–29%)1 ligoje
GLI3GLI family zinc finger 3Kartais (5–29%)2 ligose
GORABgolgin, RAB6 interactingKartais (5–29%)1 ligoje
GRIA3glutamate ionotropic receptor AMPA type subunit 3Kartais (5–29%)1 ligoje
GRIN1glutamate ionotropic receptor NMDA type subunit 1Kartais (5–29%)1 ligoje
GTF3C3general transcription factor IIIC subunit 3Kartais (5–29%)1 ligoje
GTPBP3GTP binding protein 3, mitochondrialKartais (5–29%)1 ligoje
HMGCL3-hydroxy-3-methylglutaryl-CoA lyaseKartais (5–29%)1 ligoje
IFT140intraflagellar transport 140Kartais (5–29%)1 ligoje
JAG1jagged canonical Notch ligand 1Kartais (5–29%)1 ligoje
JAG2jagged canonical Notch ligand 2Kartais (5–29%)1 ligoje
KIF1Ckinesin family member 1CKartais (5–29%)1 ligoje
KLF13KLF transcription factor 13Kartais (5–29%)1 ligoje
LEF1lymphoid enhancer binding factor 1Kartais (5–29%)1 ligoje
LGI1leucine rich glioma inactivated 1Kartais (5–29%)1 ligoje
LRP5LDL receptor related protein 5Kartais (5–29%)2 ligose
LTBP2latent transforming growth factor beta binding protein 2Kartais (5–29%)1 ligoje
MAP3K7mitogen-activated protein kinase kinase kinase 7Kartais (5–29%)1 ligoje
MID1midline 1Kartais (5–29%)1 ligoje
MPV17mitochondrial inner membrane protein MPV17Kartais (5–29%)1 ligoje
MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1Kartais (5–29%)1 ligoje
MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2Kartais (5–29%)1 ligoje
MT-TNmitochondrially encoded tRNA-Asn (AAU/C)Kartais (5–29%)1 ligoje
MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1Kartais (5–29%)1 ligoje
MYT1Lmyelin transcription factor 1 likeKartais (5–29%)1 ligoje
NDPnorrin cystine knot growth factor NDPKartais (5–29%)1 ligoje
NFIXnuclear factor I XKartais (5–29%)1 ligoje
NKX2-1NK2 homeobox 1Kartais (5–29%)1 ligoje
NTNG1netrin G1Kartais (5–29%)1 ligoje
PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1Kartais (5–29%)1 ligoje
PCDH19protocadherin 19Kartais (5–29%)1 ligoje
PIEZO2piezo type mechanosensitive ion channel component 2Kartais (5–29%)1 ligoje
PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alphaKartais (5–29%)1 ligoje
POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)Kartais (5–29%)1 ligoje
POMKprotein O-mannose kinaseKartais (5–29%)1 ligoje
POMT1protein O-mannosyltransferase 1Kartais (5–29%)1 ligoje
POMT2protein O-mannosyltransferase 2Kartais (5–29%)1 ligoje
PSMB8proteasome 20S subunit beta 8Kartais (5–29%)1 ligoje
PTENphosphatase and tensin homologKartais (5–29%)2 ligose
PTPN11protein tyrosine phosphatase non-receptor type 11Kartais (5–29%)2 ligose
PYCR1pyrroline-5-carboxylate reductase 1Kartais (5–29%)1 ligoje
RAB39BRAB39B, member RAS oncogene familyKartais (5–29%)1 ligoje
RAF1Raf-1 proto-oncogene, serine/threonine kinaseKartais (5–29%)1 ligoje
RECQL4RecQ like helicase 4Kartais (5–29%)1 ligoje
RNF135ring finger protein 135Kartais (5–29%)1 ligoje
RNU5B-1RNA, U5B small nuclear 1Kartais (5–29%)1 ligoje
RPS6KC1ribosomal protein S6 kinase C1Kartais (5–29%)1 ligoje
RYR1ryanodine receptor 1Kartais (5–29%)1 ligoje
SARDHsarcosine dehydrogenaseKartais (5–29%)1 ligoje
SHHsonic hedgehog signaling moleculeKartais (5–29%)1 ligoje
SLC25A24solute carrier family 25 member 24Kartais (5–29%)1 ligoje
SLC29A3solute carrier family 29 member 3Kartais (5–29%)1 ligoje
SMC1Astructural maintenance of chromosomes 1AKartais (5–29%)1 ligoje
SMPD1sphingomyelin phosphodiesterase 1Kartais (5–29%)1 ligoje
SMSspermine synthaseKartais (5–29%)1 ligoje
SPEGstriated muscle enriched protein kinaseKartais (5–29%)1 ligoje
SRYsex determining region YKartais (5–29%)1 ligoje
TAC3tachykinin precursor 3Kartais (5–29%)1 ligoje
THtyrosine hydroxylaseKartais (5–29%)1 ligoje
TRIM37tripartite motif containing 37Kartais (5–29%)1 ligoje
TSPAN12tetraspanin 12Kartais (5–29%)1 ligoje
TSPOAP1TSPO associated protein 1Kartais (5–29%)1 ligoje
TTC19tetratricopeptide repeat domain 19Kartais (5–29%)1 ligoje
TTNtitinKartais (5–29%)1 ligoje
VPS13Dvacuolar protein sorting 13 homolog DKartais (5–29%)1 ligoje
VPS16VPS16 core subunit of CORVET and HOPS complexesKartais (5–29%)1 ligoje
ZMYM2zinc finger MYM-type containing 2Kartais (5–29%)1 ligoje
ZNF408zinc finger protein 408Kartais (5–29%)1 ligoje
ZSCAN10zinc finger and SCAN domain containing 10Kartais (5–29%)1 ligoje
ACAT1acetyl-CoA acetyltransferase 1Retai (1–4 %)1 ligoje
ACVR1activin A receptor type 1Retai (1–4 %)1 ligoje
CABP4calcium binding protein 4Retai (1–4 %)1 ligoje
CHRNA2cholinergic receptor nicotinic alpha 2 subunitRetai (1–4 %)1 ligoje
CHRNA4cholinergic receptor nicotinic alpha 4 subunitRetai (1–4 %)1 ligoje
CHRNB2cholinergic receptor nicotinic beta 2 subunitRetai (1–4 %)1 ligoje
CRHcorticotropin releasing hormoneRetai (1–4 %)1 ligoje
DCCDCC netrin 1 receptorRetai (1–4 %)2 ligose
DEPDC5DEP domain containing 5, GATOR1 subcomplex subunitRetai (1–4 %)1 ligoje
DNAL4dynein axonemal light chain 4Retai (1–4 %)1 ligoje
DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1ARetai (1–4 %)1 ligoje
FGD1FYVE, RhoGEF and PH domain containing 1Retai (1–4 %)1 ligoje
GBA2glucosylceramidase beta 2Retai (1–4 %)1 ligoje
HINT1histidine triad nucleotide binding protein 1Retai (1–4 %)1 ligoje
KCNT1potassium sodium-activated channel subfamily T member 1Retai (1–4 %)1 ligoje
NTN1netrin 1Retai (1–4 %)2 ligose
PRRT2proline rich transmembrane protein 2Retai (1–4 %)1 ligoje
RAD51RAD51 recombinaseRetai (1–4 %)2 ligose
STAC3SH3 and cysteine rich domain 3Retai (1–4 %)1 ligoje
ARPC4actin related protein 2/3 complex subunit 4Neužfiksuota1 ligoje
ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2Neužfiksuota1 ligoje
BSCL2BSCL2 lipid droplet biogenesis associated, seipinNeužfiksuota1 ligoje
C12orf57chromosome 12 open reading frame 57Neužfiksuota1 ligoje
CLCN4Cl-/H+ antiporter 4Neužfiksuota1 ligoje
DLATdihydrolipoamide S-acetyltransferaseNeužfiksuota1 ligoje
DMDdystrophinNeužfiksuota1 ligoje
DNAJC21DnaJ heat shock protein family (Hsp40) member C21Neužfiksuota1 ligoje
ERCC4ERCC excision repair 4, endonuclease catalytic subunitNeužfiksuota1 ligoje
FIBPFGF1 intracellular binding proteinNeužfiksuota1 ligoje
FLCNfolliculinNeužfiksuota1 ligoje
GLB1galactosidase beta 1Neužfiksuota1 ligoje
GNPTGN-acetylglucosamine-1-phosphate transferase subunit gammaNeužfiksuota1 ligoje
HEPACAMhepatic and glial cell adhesion moleculeNeužfiksuota1 ligoje
MLC1modulator of VRAC current 1Neužfiksuota1 ligoje
MSMO1methylsterol monooxygenase 1Neužfiksuota1 ligoje
NF1neurofibromin 1Neužfiksuota1 ligoje
NFE2L2NFE2 like bZIP transcription factor 2Neužfiksuota1 ligoje
NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHLNeužfiksuota1 ligoje
SBDSSBDS ribosome maturation factorNeužfiksuota1 ligoje
SOX3SRY-box transcription factor 3Neužfiksuota1 ligoje
SRP54signal recognition particle 54Neužfiksuota1 ligoje
SRPX2sushi repeat containing protein X-linked 2Neužfiksuota1 ligoje
SYN1synapsin INeužfiksuota1 ligoje
TFAP2Atranscription factor AP-2 alphaNeužfiksuota1 ligoje
TFAP2Btranscription factor AP-2 betaNeužfiksuota1 ligoje
THG1LtRNA-histidine guanylyltransferase 1 likeNeužfiksuota1 ligoje
ZNF462zinc finger protein 462Neužfiksuota1 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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