syndromic microphthalmia 12 (DOID:0111800)
Alliance: disease page
Synonyms: MCOPS12; microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
Alt IDs: OMIM:615524
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.