Term Name:	syndromic microphthalmia 12
Synonyms:	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.
Ontology:	Human Disease [DOID:0111800]   ( DOID:0111800 )