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Perrault syndrome

Disease Summary
Associated Targets (6)
Tbio

5

Tchem

1


GARD Rare
Mondo Description 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.
Disease Ontology Description An autosomal recessive disesase that is characterized by sensorineural hearing loss and ovarian failure.
Mondo Term and Equivalent IDs
MONDO:0017312:  Perrault syndrome
GARD:0002542: 
OMIMPS:233400: 
Orphanet:2855: 
SCTID:93466004: 
UMLS:C0685838: 
UMLS:CN239459: