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Human Disease

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
Ontology
Human Disease   ( DOID:0111811 )
Relationships
is a type of
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Genes Involved
Zebrafish Models