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Perrault syndrome 1

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene.
Uniprot Description A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement.
Mondo Term and Equivalent IDs
MONDO:0009300:  Perrault syndrome 1