syndromic microphthalmia 13

Term ID

DOID:0111811

Synonyms

• colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation
• Maine microphthalmos
• MCOPS13
• X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

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. (2)

References

• OMIM:300915
• ORDO:431140

Ontology

Human Disease   ( DOID:0111811 )