Term Name: syndromic microphthalmia 5
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 )

Relationships
is a type of: autosomal dominant disease syndromic microphthalmia