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
  • mild mental retardation
  • cerebellar involvement peripheral nervous system involvement

Laboratory

• HSD17B4 gene mutation

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/233400