Abnormal Hair, Joint Laxity, and Developmental Delay (HJDD)

Abnormal Hair, Joint Laxity, and Developmental Delay, also known as pili torti and developmental delay, is related to pili torti-developmental delay-neurological abnormalities syndrome. An important gene associated with Abnormal Hair, Joint Laxity, and Developmental Delay is HEPHL1 (Hephaestin Like 1). Related phenotypes are dysarthria and developmental regression