DISEASES

Disease-gene associations mined from literature

Human genes for syndromic microphthalmia 13

Syndromic microphthalmia 13 [DOID:0111811]

A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in HMGB3 on chromosome Xq28.

Synonyms:  syndromic microphthalmia 13,  DOID:0111811,  colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation,  Maine microphthalmos,  MCOPS13 ...