hearing loss, autosomal recessive 117
MONDO:0030905Mondo
Findings
No curated finding names hearing loss, autosomal recessive 117 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood 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.
- Sensorineural hearing impairmentHPOHP:0000407
- 3 of 3 reported patients · Childhood onset
- Abnormal vestibular functionHPOHP:0001751
- 0 of 3 reported patients
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.
- CLRN2HGNC:33939
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
Where it sits
- A kind of