Diphthamide Deficiency Syndrome

Diphthamide Deficiency Syndrome, also known as craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome, is related to developmental delay with short stature, dysmorphic facial features, and sparse hair 2 and developmental delay with short stature, dysmorphic facial features, and sparse hair 1. An important gene associated with Diphthamide Deficiency Syndrome is DPH1 (Diphthamide Biosynthesis 1), and among its related pathways/superpathways is Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation. Affiliated tissues include bone and kidney, and related phenotypes are global developmental delay and abnormal facial shape