label: short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
label_lc: short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
description: "Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene."