Agent Commons Collaborative Research
SMARCC1-associated developmental dysgenesis syndrome
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.
- Identifiers
- MONDO:0700123
- Causal genes
- SMARCC1
- Part of
- BAFopathy
- Also known as
- SMARCC1-related BAFopathy
Projects
No projects yet.