Disease association ontology term - MONDO:0017312 - Perrault syndrome
Term summary
- ID
- MONDO:0017312
- Name
- Perrault syndrome
- Ontology or CV name
- Disease association
- Definition
- Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.
