Trait
Colpocephaly
Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles.
Summary
- Body system
- Abnormality of the nervous system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test41 genes linked to Colpocephaly
Changes in these genes cause rare conditions in which Colpocephaly is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| COL4A2collagen type IV alpha 2 chain | Always | In 1 condition |
| ESAMendothelial cell adhesion molecule | Always | In 1 condition |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Always | In 1 condition |
| NADK2NAD kinase 2, mitochondrial | Always | In 1 condition |
| SEC31ASEC31 homolog A, COPII component | Always | In 1 condition |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| WSB2WD repeat and SOCS box containing 2 | Always | In 1 condition |
| ERMARDER membrane associated RNA degradation | Very often (80–99%) | In 1 condition |
| GPSM2G protein signaling modulator 2 | Very often (80–99%) | In 1 condition |
| TUBA8tubulin alpha 8 | Very often (80–99%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Often (30–79%) | In 1 condition |
| ARSIarylsulfatase family member I | Often (30–79%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Often (30–79%) | In 1 condition |
| DNM1dynamin 1 | Often (30–79%) | In 1 condition |
| FANCIFA complementation group I | Often (30–79%) | In 1 condition |
| NCAPG2non-SMC condensin II complex subunit G2 | Often (30–79%) | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Often (30–79%) | In 1 condition |
| SRPK3SRSF protein kinase 3 | Often (30–79%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 1 condition |
| DHX37DEAH-box helicase 37 | Sometimes (5–29%) | In 1 condition |
| FRA10AC1FRA10A associated CGG repeat 1 | Sometimes (5–29%) | In 1 condition |
| KAT6Blysine acetyltransferase 6B | Sometimes (5–29%) | In 1 condition |
| KDM1Alysine demethylase 1A | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| KIF26Akinesin family member 26A | Sometimes (5–29%) | In 1 condition |
| NRCAMneuronal cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Sometimes (5–29%) | In 1 condition |
| PLXNA1plexin A1 | Sometimes (5–29%) | In 1 condition |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Sometimes (5–29%) | In 1 condition |
| RPS6KC1ribosomal protein S6 kinase C1 | Sometimes (5–29%) | In 1 condition |
| STAG2STAG2 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| ZNF148zinc finger protein 148 | Sometimes (5–29%) | In 1 condition |
| ZNF462zinc finger protein 462 | Sometimes (5–29%) | In 1 condition |
| ACBD6acyl-CoA binding domain containing 6 | Rarely (1–4%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Not recorded | In 1 condition |
| HCCSholocytochrome c synthase | Not recorded | In 1 condition |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Not recorded | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Not recorded | In 1 condition |
Show 1 more gene
| Gene | How often it is seen | Conditions |
|---|---|---|
| PEX10peroxisomal biogenesis factor 10 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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