developmental delay with short stature, dysmorphic facial features, and sparse hair 1
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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0018454
obsolete dysostosis of genetic origin (obsolete MONDO:0018454)
excluded_subClassOf
MONDO:0031632
developmental delay with short stature, dysmorphic facial features, and sparse hair
is_a
DEDSSH1
exact
developmental delay with short stature, dysmorphic facial features, and sparse hair
broad
developmental delay with short stature, dysmorphic features, and sparse hair 1
exact
developmental delay-short stature-dysmorphic features-sparse hair syndrome
broad
diphtamide deficiency syndrome
exact
SPBC3B8.05