cochleosaccular degeneration-cataract syndrome
MONDO:0007346Mondo
Findings
No curated finding names cochleosaccular degeneration-cataract syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cochleosaccular degeneration-cataract syndrome is characterized by progressive sensorineural hearing loss due to severe cochleosaccular degeneration and cataract. So far, it has been reported in two families. Transmission is autosomal dominant.
Definition from the Mondo Disease Ontology (MONDO:0007346), read 2026-09-29. CC BY 4.0.
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.
- CataractHPOHP:0000518
- Very frequent (80% to 99% of cases)
- Cochlear degenerationHPOHP:0005102
- Very frequent (80% to 99% of cases)
- Progressive sensorineural hearing impairmentHPOHP:0000408
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)