autosomal recessive nonsyndromic hearing loss 12
Findings
No curated finding names autosomal recessive nonsyndromic hearing loss 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22.
Definition from the Mondo Disease Ontology (MONDO:0011067), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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.
- Prelingual sensorineural hearing impairmentHPOHP:0000399
- 6 of 6 reported patients
- Abnormal vestibular functionHPOHP:0001751
- 0 of 6 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 0 of 6 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.
- CDH23HGNC:13733
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of