Human genes for orofaciodigital syndrome I
Orofaciodigital syndrome I [DOID:0060316]
An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease.
Synonyms: orofaciodigital syndrome I, DOID:0060316, orofaciodigital syndrome Is, orofaciodigital syndrome 1, orofaciodigital syndrome type I ...