Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Syndromic disease · Mendelian neurodevelopmental disorder · OFD1-related ciliopathy
Orofaciodigital syndrome I
A rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.
This condition has no sub-types.