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. The disease is orofaciodigital syndrome I (MONDO_0010702, a Monarch Disease Ontology term). Also known as: OFD syndrome 1, OFD1, OFDI, OFDS 1, OFDSI, Papillon-Leage and Psaume syndrome, Papillon-Leage-Psaume syndrome, Papillon-Léage-Psaume syndrome.