Shukla-Vernon Syndrome (SHUVER)

Shukla-Vernon Syndrome, also known as shuver, is related to kyphosis and microphthalmia, syndromic 2. An important gene associated with Shukla-Vernon Syndrome is BCORL1 (BCL6 Corepressor Like 1), and among its related pathways/superpathways is Pathways affected in adenoid cystic carcinoma. Affiliated tissues include brain, and related phenotypes are coarse facial features and global developmental delay