autosomal recessive disease mitochondrial oxidative phosphorylation disorder Perrault syndrome https://www.malacards.org/card/perrault_syndrome Orphanet:2855 gonadal dysgenesis, XX type, with deafness SCTID:93466004 DOID:0050857 OMIMPS:233400 UMLS:C0685838 MONDO:0017312 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. icd11.foundation:256968598 XX gonodal dysgenesis-deafness syndrome MEDGEN:151934 GARD:0002542 Perrault syndrome NORD:2031 inherited primary ovarian failure