Clinical features
Mutations in POC1A cause a clinically recognizable autosomal-recessive form of primordial dwarfism called SOFT syndrome, which is characterized by short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.
Prevalence
The prevalence of POC1A-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
POC1A-related disorder is inherited in an autosomal recessive manner.