hearing loss, autosomal recessive 57
MONDO:0033201Mondo
Findings
No curated finding names hearing loss, autosomal recessive 57 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
5 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.
- Hearing impairmentHPOHP:0000365
- 12 of 12 reported patients · Infantile onset
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients · Infantile onset
- Abnormal retinal morphologyHPOHP:0000479
- 0 of 1 reported patient
- Abnormal vestibular functionHPOHP:0001751
- 0 of 3 reported patients
- Visual impairmentHPOHP:0000505
- 0 of 4 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.
- PDZD7HGNC:26257
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of