Microphthalmia, Syndromic 12 (MCOPS12)

Microphthalmia, Syndromic 12, also known as microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects, is related to hypervitaminosis a and syndromic microphthalmia. An important gene associated with Microphthalmia, Syndromic 12 is RARB (Retinoic Acid Receptor Beta), and among its related pathways/superpathways are Development of ureteric collection system and Signaling events mediated by the Hedgehog family. Affiliated tissues include cerebellum and lung, and related phenotypes are hypoplastic left atrium and intellectual disability