Perrault Syndrome 5

Preferred Label : Perrault Syndrome 5;

NCIt synonyms : PRLTS5;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the TWNK gene, encoding twinkle mtDNA helicase. In both sexes, it is characterized by deafness, with ovarian dysgenesis in females.;

Details

Origin ID

C206102;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

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