Trait
Schizencephaly
The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area.
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 Test12 genes linked to Schizencephaly
Changes in these genes cause rare conditions in which Schizencephaly 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 |
| SNAPINSNAP associated protein | Always | In 1 condition |
| DHRS3dehydrogenase/reductase 3 | Often (30–79%) | In 1 condition |
| MSL2MSL complex subunit 2 | Often (30–79%) | In 1 condition |
| KIF26Akinesin family member 26A | Sometimes (5–29%) | In 1 condition |
| TUBB2Btubulin beta 2B class IIb | Rarely (1–4%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Not recorded | In 1 condition |
| EMX2empty spiracles homeobox 2 | Not recorded | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Not recorded | In 1 condition |
| SIX3SIX homeobox 3 | Not recorded | In 1 condition |
| WDR62WD repeat domain 62 | Not recorded | In 1 condition |
| WNT1Wnt family member 1 | 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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