Trait
Cochlear malformation
The presence of a malformed cochlea.
Summary
- Body system
- Abnormality of the ear
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test6 genes linked to Cochlear malformation
Changes in these genes cause rare conditions in which Cochlear malformation 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 |
|---|---|---|
| EBF3EBF transcription factor 3 | Rarely (1–4%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Rarely (1–4%) | In 1 condition |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Not recorded | In 1 condition |
| FOXI1forkhead box I1 | Not recorded | In 1 condition |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Not recorded | In 1 condition |
| SLC26A4solute carrier family 26 member 4 | 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.
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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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