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isolated microphthalmia 2
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease isolated microphthalmia
External Links
- Disease Ontology
- DOID:0060839
- Mondo Disease Ontology
- ORDO
- OMIM
