syndromic microphthalmia 2 (DOID:0111809)
Alliance: disease page
Synonyms: ANOP2; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; MAA2; MCOPS2; microphthalmia cataracts radiculomegaly and septal heart defects; oculofaciocardiodental syndrome; OFCD syndrome; syndromic microphthalmia type 2
Alt IDs: OMIM:300166, MESH:C537465, ORDO:2712, UMLS_CUI:C1846265
Definition: A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4.