Term Name: syndromic microphthalmia 13
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 )

Relationships
is a type of: syndromic microphthalmia X-linked monogenic disease