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 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 )

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