Term Name: | syndromic microphthalmia 5 |
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Synonyms: | MCOPS5, syndromic microphthalmia type 5, syndromic microphthalmia/anophthalmia due to OTX2 mutation |
Definition: | A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. |
Ontology: | Human Disease [DOID:0111806] ( DOID:0111806 ) |