Term Name: | syndromic microphthalmia 8 |
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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. |
Ontology: | Human Disease [DOID:0111803] ( DOID:0111803 ) |