Term Name: isolated microphthalmia 2
Synonyms: MCOP2
Definition: An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24.
Ontology: Human Disease [DOID:0060839]   ( DOID:0060839 )

Relationships
is a type of: autosomal recessive disease isolated microphthalmia