Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 1 (DEDSSH1)

Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 1, also known as developmental delay with short stature, dysmorphic facial features, and sparse hair, is related to diphthamide deficiency syndrome and developmental delay with short stature, dysmorphic facial features, and sparse hair 2. An important gene associated with Developmental Delay with Short Stature, Dysmorphic Facial Features, and Sparse Hair 1 is DPH1 (Diphthamide Biosynthesis 1).