Term Name: syndromic microphthalmia 2
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 ocular defects including microphthalmia, microcornea, and congentital cataract; facial dysmorphism including septate nasal cartilage with high nasal bridge; congenital heart defects, most commonly a septal defect; and dental anomalies, most commonly persistent primary teeth and radiculomegaly that has_material_basis_in mutation in the BCL6 corepressor gene on chromosome Xp11.
Ontology: Human Disease [DOID:0111809]   ( DOID:0111809 )

Relationships
is a type of: syndromic microphthalmia X-linked dominant disease