Tunnus
Small head present at birth
Kliiniline nimetus: Primary microcephaly
Head circumference below 2 standard deviations below the mean for age and gender at birth.
Kokkuvõte
- Teised nimetused
- Congenital decreased head circumference, Congenital microcephaly, Congenital small skull, Decreased head circumference present at birth, Microcephaly present at birth, Small cranium present at birth
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Small head present at birth, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test101 geeni on seotud tunnusega Small head present at birth
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Small head present at birth. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ANKLE2ankyrin repeat and LEM domain containing 2 | Alati | Esineb 1 haiguses |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Alati | Esineb 1 haiguses |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Alati | Esineb 1 haiguses |
| ATXN7L3ataxin 7 like 3 | Alati | Esineb 1 haiguses |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Alati | Esineb 1 haiguses |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Alati | Esineb 1 haiguses |
| CDK6cyclin dependent kinase 6 | Alati | Esineb 1 haiguses |
| CENPEcentromere protein E | Alati | Esineb 1 haiguses |
| CEP135centrosomal protein 135 | Alati | Esineb 1 haiguses |
| CEP295centrosomal protein 295 | Alati | Esineb 1 haiguses |
| CEP63centrosomal protein 63 | Alati | Esineb 1 haiguses |
| CITcitron rho-interacting serine/threonine kinase | Alati | Esineb 1 haiguses |
| COASYCoenzyme A synthase | Alati | Esineb 1 haiguses |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alati | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Alati | Esineb 2 haiguses |
| DTYMKdeoxythymidylate kinase | Alati | Esineb 1 haiguses |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alati | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alati | Esineb 1 haiguses |
| FZR1fizzy and cell division cycle 20 related 1 | Alati | Esineb 1 haiguses |
| GINS3GINS complex subunit 3 | Alati | Esineb 1 haiguses |
| GTPBP1GTP binding protein 1 | Alati | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| IARS1isoleucyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| IER3IP1immediate early response 3 interacting protein 1 | Alati | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Alati | Esineb 1 haiguses |
| KNL1kinetochore scaffold 1 | Alati | Esineb 1 haiguses |
| LAGE3L antigen family member 3 | Alati | Esineb 1 haiguses |
| LGI1leucine rich glioma inactivated 1 | Alati | Esineb 1 haiguses |
| LMNB2lamin B2 | Alati | Esineb 1 haiguses |
| MCPH1microcephalin 1 | Alati | Esineb 1 haiguses |
| NBNnibrin | Alati | Esineb 1 haiguses |
| NCAPD2non-SMC condensin I complex subunit D2 | Alati | Esineb 1 haiguses |
| NDE1nudE neurodevelopment protein 1 | Alati | Esineb 3 haiguses |
| NOTCH3notch receptor 3 | Alati | Esineb 1 haiguses |
| NUP188nucleoporin 188 | Alati | Esineb 1 haiguses |
| NUP37nucleoporin 37 | Alati | Esineb 1 haiguses |
| PCDH12protocadherin 12 | Alati | Esineb 1 haiguses |
| PDCD6IPprogrammed cell death 6 interacting protein | Alati | Esineb 1 haiguses |
| PHGDHphosphoglycerate dehydrogenase | Alati | Esineb 3 haiguses |
| PPFIBP1PPFIB scaffold protein 1 | Alati | Esineb 1 haiguses |
Näita veel 61 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| RBBP8RB binding protein 8, endonuclease | Alati | Esineb 2 haiguses |
| SASS6SAS-6 centriolar assembly protein | Alati | Esineb 1 haiguses |
| SLC25A19solute carrier family 25 member 19 | Alati | Esineb 1 haiguses |
| SPOPspeckle type BTB/POZ protein | Alati | Esineb 1 haiguses |
| STILSTIL centriolar assembly protein | Alati | Esineb 1 haiguses |
| TOP2BDNA topoisomerase II beta | Alati | Esineb 1 haiguses |
| TP53RKTP53 regulating kinase | Alati | Esineb 1 haiguses |
| TPRKBTP53RK binding protein | Alati | Esineb 1 haiguses |
| TRAPPC14trafficking protein particle complex subunit 14 | Alati | Esineb 1 haiguses |
| TRMT10AtRNA methyltransferase 10A | Alati | Esineb 2 haiguses |
| TUBBtubulin beta class I | Alati | Esineb 1 haiguses |
| WSB2WD repeat and SOCS box containing 2 | Alati | Esineb 1 haiguses |
| ZNF335zinc finger protein 335 | Alati | Esineb 1 haiguses |
| CLPBClpB family mitochondrial disaggregase | Väga sageli (80–99%) | Esineb 1 haiguses |
| KATNB1katanin regulatory subunit B1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PORCNporcupine O-acyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PSAT1phosphoserine aminotransferase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RELNreelin | Väga sageli (80–99%) | Esineb 1 haiguses |
| TELO2telomere maintenance 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TXN2thioredoxin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AFF3ALF transcription elongation factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| COG7component of oligomeric golgi complex 7 | Sageli (30–79%) | Esineb 2 haiguses |
| DNM1Ldynamin 1L | Sageli (30–79%) | Esineb 1 haiguses |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sageli (30–79%) | Esineb 1 haiguses |
| EIF5Aeukaryotic translation initiation factor 5A | Sageli (30–79%) | Esineb 1 haiguses |
| EOMESeomesodermin | Sageli (30–79%) | Esineb 1 haiguses |
| FBXO22F-box protein 22 | Sageli (30–79%) | Esineb 1 haiguses |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sageli (30–79%) | Esineb 1 haiguses |
| FRMD4AFERM domain containing 4A | Sageli (30–79%) | Esineb 2 haiguses |
| GON4Lgon-4 like | Sageli (30–79%) | Esineb 1 haiguses |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Sageli (30–79%) | Esineb 2 haiguses |
| GTF3C3general transcription factor IIIC subunit 3 | Sageli (30–79%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Sageli (30–79%) | Esineb 1 haiguses |
| ITGAVintegrin subunit alpha V | Sageli (30–79%) | Esineb 1 haiguses |
| KICS2KICSTOR subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Sageli (30–79%) | Esineb 1 haiguses |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Sageli (30–79%) | Esineb 1 haiguses |
| RNF2ring finger protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC1A4solute carrier family 1 member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC25A12solute carrier family 25 member 12 | Sageli (30–79%) | Esineb 1 haiguses |
| SMC3structural maintenance of chromosomes 3 | Sageli (30–79%) | Esineb 1 haiguses |
| SNAPINSNAP associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TRAPPC12trafficking protein particle complex subunit 12 | Sageli (30–79%) | Esineb 1 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Sageli (30–79%) | Esineb 1 haiguses |
| TSEN54tRNA splicing endonuclease subunit 54 | Sageli (30–79%) | Esineb 1 haiguses |
| VAC14VAC14 component of PIKFYVE complex | Sageli (30–79%) | Esineb 1 haiguses |
| VPS4Avacuolar protein sorting 4 homolog A | Sageli (30–79%) | Esineb 1 haiguses |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Sageli (30–79%) | Esineb 1 haiguses |
| AFG2AAAA ATPase AFG2A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK4cyclin dependent kinase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFIH1interferon induced with helicase C domain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBCDtubulin folding cofactor D | Mõnikord (5–29%) | Esineb 1 haiguses |
| TUBB3tubulin beta 3 class III | Mõnikord (5–29%) | Esineb 1 haiguses |
| WDR83OSWD repeat domain 83 opposite strand | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZEB2zinc finger E-box binding homeobox 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| MECP2methyl-CpG binding protein 2 | Harva (1–4%) | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast