/developmental delay with short stature, dysmorphic facial features, and sparse hair 2
developmental delay with short stature, dysmorphic facial features, and sparse hair 2
MONDO:0100217
Also Known As
DEDSSH2diphthamide deficiency syndrome 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.
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