hearing loss, autosomal recessive 123
MONDO:0958277Mondo
Findings
No curated finding names hearing loss, autosomal recessive 123 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
4 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
- 8 of 8 reported patients
- MacrocephalyHPOHP:0000256
- 1 of 8 reported patients
- Abnormal vestibular functionHPOHP:0001751
- 0 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 0 of 8 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.
- STX4HGNC:11439
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of