orofaciodigital syndrome IX (DOID:0060382)
Alliance: disease page
Synonyms: OFD9; orofaciodigital syndrome with retinal abnormalities
Alt IDs: OMIM:258865, MESH:C557818, ORDO:141007, UMLS_CUI:C0796102
Definition: An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance.