Term Name: | syndromic microphthalmia 11 |
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Synonyms: | MCOPS11 |
Definition: | A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. |
Ontology: | Human Disease [DOID:0111804] ( DOID:0111804 ) |