Perrault syndrome

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Name:
Perrault syndrome
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.
ORPHAcode:
2855
Synonyms:
XX gonodal dysgenesis-deafness syndrome
XX gonodal dysgenesis-hearing loss syndrome
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
01 May 2022 - 06:55