Term Name: | syndromic microphthalmia 2 |
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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 |
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. |
Ontology: | Human Disease [DOID:0111809] ( DOID:0111809 ) |