Term Name: | isolated microphthalmia 8 |
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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 ) |