autosomal recessive nonsyndromic hearing loss 53
MONDO:0012333Mondo
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 53 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012333), read 2026-09-29. CC BY 4.0.
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.
- COL11A2HGNC:2187
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2015
Where it sits
- A kind of