syndromic microphthalmia 12

Term ID

DOID:0111800

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. (2)

References

• GARD:13235
• OMIM:615524

Ontology

Human Disease   ( DOID:0111800 )