OBO ID: DOID:0111811
Term Name: syndromic microphthalmia 13 Search Ontology:
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:
OTHER syndromic microphthalmia 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HMGB3 ?Microphthalmia, syndromic 13 300915
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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