hearing loss, X-linked 6
MONDO:0010484Mondo
Findings
No curated finding names hearing loss, X-linked 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene.
Definition from the Mondo Disease Ontology (MONDO:0010484), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 4 of 4 reported patients · Congenital onset · Male
- Incomplete partition of the cochleaHPOHP:0011373
- 4 of 4 reported patients · Male
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL4A6HGNC:2208
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Limited · Ambry Genetics · X-linked · 2018
- Limited · ClinGen · X-linked · 2022
Where it sits
- A kind of