X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndromeMCOPS13colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardationMaine microphthalmos
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in HMGB3 on chromosome Xq28.