Perrault syndrome
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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
MONDO:0019852
inherited primary ovarian failure
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Perrault syndrome
exact
XX gonodal dysgenesis-deafness syndrome
exact
gonadal dysgenesis, XX type, with deafness
related
SPBC29A3.15c SPBC2G2.12 SPAC4G8.09