OBO ID: DOID:0111803
Term Name: syndromic microphthalmia 8 Search Ontology:
Synonyms:
  • MCOPS8
  • microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
  • MMEP syndrome
  • syndromic microphthalmia type 8
  • Viljoen-Smart syndrome
Definition: A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. https://www.ncbi.nlm.nih.gov/pubmed/12471201
References:
Ontology: Human Disease   ( DOID:0111803 )
Relationships
is a type of:
OTHER syndromic microphthalmia 8 PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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