Term Name: syndromic microphthalmia 11
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 )

Relationships
is a type of: syndromic microphthalmia