short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
related
soft
related
soft syndrome
exact
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