syndromic microphthalmia 13 (DOID:0111811)
Alliance: disease page
Synonyms: colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation; Maine microphthalmos; MCOPS13; X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Alt IDs: OMIM:300915, ORDO:431140
Definition: A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28.