olivopontocerebellar atrophy-deafness syndrome
Findings
No curated finding names olivopontocerebellar atrophy-deafness syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases.
Definition from the Mondo Disease Ontology (MONDO:0017135), read 2026-09-29. CC BY 4.0.
Features
14 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.
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- VentriculomegalyHPOHP:0002119
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Olivopontocerebellar atrophy
Show the remaining 2
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- StrabismusHPOHP:0000486
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: olivopontocerebellar atrophy-deafness syndrome
- Also called
- Olivopontocerebellar Atrophy