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Perrault syndrome 3

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene.
Uniprot Description A sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some PRLTS3 affected individuals.
Mondo Term and Equivalent IDs
MONDO:0013588:  Perrault syndrome 3
UMLS:C3808414: