hearing loss, autosomal recessive 100
MONDO:0032740Mondo
Findings
No curated finding names hearing loss, autosomal recessive 100 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
- Congenital onset
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.
- Sensorineural hearing impairmentHPOHP:0000407
- 12 of 12 reported patients
- Abnormal fundus morphologyHPOHP:0001098
- 0 of 4 reported patients
- Abnormal vestibular functionHPOHP:0001751
- 0 of 12 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.
- PPIP5K2HGNC:29035
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
- A kind of