BAFopathy SMARCC1-associated developmental dysgenesis syndrome https://github.com/monarch-initiative/mondo/issues/3939 https://github.com/monarch-initiative/mondo/issues/6196 MONDO:0700123 SMARCC1-related BAFopathy Variants in SMARCC1 cause a novel human syndrome characterized by developmental delay, cerebral ventriculomegaly and aqueductal stenosis, and other associated structural brain and cardiac defects.