Træk
Small head present at birth
Klinisk navn: Primary microcephaly
Head circumference below 2 standard deviations below the mean for age and gender at birth.
Resumé
- Også kaldet
- Congenital decreased head circumference, Congenital microcephaly, Congenital small skull, Decreased head circumference present at birth, Microcephaly present at birth, Small cranium present at birth
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test101 gener knyttet til Small head present at birth
Ændringer i disse gener forårsager sjældne tilstande, hvor Small head present at birth ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ANKLE2ankyrin repeat and LEM domain containing 2 | Altid | I 1 tilstand |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Altid | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Altid | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Altid | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Altid | I 1 tilstand |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Altid | I 1 tilstand |
| CDK6cyclin dependent kinase 6 | Altid | I 1 tilstand |
| CENPEcentromere protein E | Altid | I 1 tilstand |
| CEP135centrosomal protein 135 | Altid | I 1 tilstand |
| CEP295centrosomal protein 295 | Altid | I 1 tilstand |
| CEP63centrosomal protein 63 | Altid | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Altid | I 1 tilstand |
| COASYCoenzyme A synthase | Altid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Altid | I 1 tilstand |
| CTNNB1catenin beta 1 | Altid | I 2 tilstande |
| DTYMKdeoxythymidylate kinase | Altid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Altid | I 1 tilstand |
| GINS3GINS complex subunit 3 | Altid | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Altid | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Altid | I 1 tilstand |
| IARS1isoleucyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| IER3IP1immediate early response 3 interacting protein 1 | Altid | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Altid | I 1 tilstand |
| KNL1kinetochore scaffold 1 | Altid | I 1 tilstand |
| LAGE3L antigen family member 3 | Altid | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Altid | I 1 tilstand |
| LMNB2lamin B2 | Altid | I 1 tilstand |
| MCPH1microcephalin 1 | Altid | I 1 tilstand |
| NBNnibrin | Altid | I 1 tilstand |
| NCAPD2non-SMC condensin I complex subunit D2 | Altid | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Altid | I 3 tilstande |
| NOTCH3notch receptor 3 | Altid | I 1 tilstand |
| NUP188nucleoporin 188 | Altid | I 1 tilstand |
| NUP37nucleoporin 37 | Altid | I 1 tilstand |
| PCDH12protocadherin 12 | Altid | I 1 tilstand |
| PDCD6IPprogrammed cell death 6 interacting protein | Altid | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Altid | I 3 tilstande |
| PPFIBP1PPFIB scaffold protein 1 | Altid | I 1 tilstand |
Vis 61 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| RBBP8RB binding protein 8, endonuclease | Altid | I 2 tilstande |
| SASS6SAS-6 centriolar assembly protein | Altid | I 1 tilstand |
| SLC25A19solute carrier family 25 member 19 | Altid | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Altid | I 1 tilstand |
| STILSTIL centriolar assembly protein | Altid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Altid | I 1 tilstand |
| TP53RKTP53 regulating kinase | Altid | I 1 tilstand |
| TPRKBTP53RK binding protein | Altid | I 1 tilstand |
| TRAPPC14trafficking protein particle complex subunit 14 | Altid | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Altid | I 2 tilstande |
| TUBBtubulin beta class I | Altid | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Altid | I 1 tilstand |
| ZNF335zinc finger protein 335 | Altid | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Meget ofte (80–99 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Meget ofte (80–99 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Meget ofte (80–99 %) | I 1 tilstand |
| PSAT1phosphoserine aminotransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RELNreelin | Meget ofte (80–99 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TXN2thioredoxin 2 | Meget ofte (80–99 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Ofte (30–79 %) | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Ofte (30–79 %) | I 2 tilstande |
| DNM1Ldynamin 1L | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Ofte (30–79 %) | I 1 tilstand |
| EOMESeomesodermin | Ofte (30–79 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Ofte (30–79 %) | I 2 tilstande |
| GON4Lgon-4 like | Ofte (30–79 %) | I 1 tilstand |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Ofte (30–79 %) | I 2 tilstande |
| GTF3C3general transcription factor IIIC subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| ITGAVintegrin subunit alpha V | Ofte (30–79 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 1 tilstand |
| NSFN-ethylmaleimide sensitive factor, vesicle fusing ATPase | Ofte (30–79 %) | I 1 tilstand |
| RNF2ring finger protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC1A4solute carrier family 1 member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC25A12solute carrier family 25 member 12 | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 1 tilstand |
| SNAPINSNAP associated protein | Ofte (30–79 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC12trafficking protein particle complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| TSEN54tRNA splicing endonuclease subunit 54 | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| VPS4Avacuolar protein sorting 4 homolog A | Ofte (30–79 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Ofte (30–79 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Nogle gange (5–29 %) | I 1 tilstand |
| CDK4cyclin dependent kinase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Nogle gange (5–29 %) | I 1 tilstand |
| TUBB3tubulin beta 3 class III | Nogle gange (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MECP2methyl-CpG binding protein 2 | Sjældent (1–4%) | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger