Condition: PERRAULT SYNDROME 5


rs369588002 in TWNK gene and PERRAULT SYNDROME 5 PMID 25355836 2014 Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.

rs556445621 in TWNK;MRPL43 gene and PERRAULT SYNDROME 5 PMID 25355836 2014 Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features.