autosomal recessive nonsyndromic hearing loss 48
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 48 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 CIB2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012273), read 2026-09-29. CC BY 4.0.
Features
1 feature
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.
- Abnormal vestibular functionHPOHP:0001751
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.
- CIB2HGNC:24579
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of
Other names
2 names
Resolves to: autosomal recessive nonsyndromic hearing loss 48
- Also called
- USH1JUsher syndrome type 1J