Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome

Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome is related to abnormal hair, joint laxity, and developmental delay. An important gene associated with Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome is HEPHL1 (Hephaestin Like 1). Affiliated tissues include skin, and related phenotypes are ataxia and global developmental delay