Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2 (DEDSSH2)

Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2, also known as diphthamide deficiency syndrome 2, is related to diphthamide deficiency syndrome. An important gene associated with Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 2 is DPH2 (Diphthamide Biosynthesis 2). Affiliated tissues include testis, and related phenotypes are global developmental delay and short stature