developmental delay with short stature, dysmorphic facial features, and sparse hair 2
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.
MONDO:0031632
developmental delay with short stature, dysmorphic facial features, and sparse hair
is_a
DEDSSH2
exact
diphthamide deficiency syndrome 2
exact
SPBC17D1.02