SMARCC1-associated developmental dysgenesis syndrome
MONDO:0700123Mondo
Findings
No curated finding names SMARCC1-associated developmental dysgenesis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0700123), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SMARCC1HGNC:11104
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: SMARCC1-associated developmental dysgenesis syndrome
- Also called
- SMARCC1-related BAFopathy