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Perrault syndrome
Genetics:
- sex-influenced disorder
- associated with defects in HSD17B4
Clinical manifestations:
- sensorineural deafness in both males & females
- ovarian dysgenesis in females
- some patients also have neurologic manifestations, including
a) mild mental retardation
b) cerebellar involvement peripheral nervous system involvement
Laboratory:
- HSD17B4 gene mutation
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 233400
References
OMIM :accession 233400