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syndromic microphthalmia 12
Summary
- Synonym
-
- MCOPS12
- microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
- Definition
- A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2.
- Super Class
- autosomal genetic disease syndromic microphthalmia
External Links
- Disease Ontology
- DOID:0111800
- Mondo Disease Ontology
- OMIM
- GARD
