Orofaciodigital syndrome type1
A hereditary, X-linked dominant, orofaciodigital syndrome characterized by oral, facial, and digital malformations. Affected individuals may also have POLYCYSTIC KIDNEY DISEASE; cardiac, and liver abnormalities, as well as neurologic involvement and intellectual disability. It is caused by mutations in the OFD1 gene. OMIM: 311200
Also Known As:
Oral-facial-digital syndrome, type 1; Papillon-League-Psaume syndrome
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