Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
Developmental delay with short stature, dysmorphic facial features, and sparse hair 2
Definition
Any developmental delay with short stature, dysmorphic facial features, and sparse hair in which the cause of the disease is a mutation in the DPH2 gene.
Also known as DEDSSH2, diphthamide deficiency syndrome 2 — per MONDO