Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

MONDO:0013894

Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.

Also known as: soft syndrome, short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, soft

0 clinical trials for this condition and its sub-types, 0 tagged with Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome itself.

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↑ Syndromic disease (7158) ↑ Primordial dwarfism and slender bone disorder (9)

Including sub-types (0) Tagged with Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (0)

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