Human genes for syndromic microphthalmia 2
Syndromic microphthalmia 2 [DOID:0111809]
A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in BCOR on chromosome Xp11.4.
Synonyms: syndromic microphthalmia 2, DOID:0111809, ANOP2, cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome, MAA2 ...