syndromic microphthalmia 8

Term ID

DOID:0111803

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

• GARD:3693
• MESH:C537686
• OMIM:601349
• ORDO:3434
• SNOMEDCT_US_2023_03_01:715533002
• UMLS_CUI:C1832440

Ontology

Human Disease   ( DOID:0111803 )