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Human Disease
syndromic microphthalmia 12
- Term ID
- DOID:0111800
- Synonyms
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- 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. (2)
- References
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- GARD:13235
- MIM:615524
- Ontology
- Human Disease ( DOID:0111800 )
- is a type of
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