short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.
MONDO:0002254
syndromic disease
is_a
MONDO:0800063
primordial dwarfism and slender bone disorder
is_a
short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
related
soft
related
soft syndrome
exact