Search Ontology:
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
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.