Term Name: | syndromic microphthalmia 13 |
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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. |
Ontology: | Human Disease [DOID:0111811] ( DOID:0111811 ) |