cataract-ataxia-deafness syndrome
MONDO:0008928Mondo
Findings
No curated finding names cataract-ataxia-deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cataract-ataxia-deafness syndrome is characterized by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0008928), read 2026-09-29. CC BY 4.0.
Features
13 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.
- Adult onset sensorineural hearing impairmentHPOHP:0008615
- Very frequent (80% to 99% of cases)
- AreflexiaHPOHP:0001284
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Very frequent (80% to 99% of cases)
- Developmental cataractHPOHP:0000519
- Very frequent (80% to 99% of cases)
- HypertoniaHPOHP:0001276
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- Peripheral neuropathyHPOHP:0009830
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- TremorHPOHP:0001337
- Frequent (30% to 79% of cases)
Show the remaining 1
- Visual impairmentHPOHP:0000505
- Frequent (30% to 79% of cases)
Where it sits
- A kind of