/developmental delay with short stature, dysmorphic facial features, and sparse hair 1
developmental delay with short stature, dysmorphic facial features, and sparse hair 1
Rare Disease
MONDO:0800438
Also Known As
developmental delay with short stature, dysmorphic facial features, and sparse hairdevelopmental delay-short stature-dysmorphic features-sparse hair syndromeDEDSSH1developmental delay with short stature, dysmorphic features, and sparse hair 1diphtamide deficiency syndromeLoucks-Innes syndrome
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.
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