Term Name: | isolated microphthalmia 2 |
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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 ) |