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Up to: Syndromic disease · Primordial dwarfism and slender bone disorder
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.
This condition has no sub-types.