Term Name: isolated microphthalmia 8
Synonyms: MCOP8
Definition: An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26.
Ontology: Human Disease [DOID:0060841]   ( DOID:0060841 )

Relationships
is a type of: autosomal recessive disease isolated microphthalmia