Perrault Syndrome 5
Description
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.
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.