Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
Developmental delay with short stature, dysmorphic facial features, and sparse hair 1
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 DPH1 gene.
Also known as DEDSSH1, developmental delay with short stature, dysmorphic features, and sparse hair 1, diphtamide deficiency syndrome — per MONDO