syndromic microphthalmia 8 (DOID:0111803)
Alliance: disease page
Synonyms: MCOPS8; microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome; MMEP syndrome; syndromic microphthalmia type 8; Viljoen-Smart syndrome
Alt IDs: OMIM:601349, MESH:C537686, ORDO:3434, UMLS_CUI:C1832440
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.