BAFopathy
MONDO:0700120Mondo
Findings
No curated finding names BAFopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Disorder caused by mutations in the various subunits composing the BAF complex.
Definition from the Mondo Disease Ontology (MONDO:0700120), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (15)
- ACTL6A-related BAFopathy
- Baraitser-Winter syndrome 1
- Coffin-Siris syndrome 1
- Coffin-Siris syndrome 5
- Coffin-Siris syndrome 6
- Coffin-Siris syndrome 8
- Dias-Logan syndrome
- intellectual developmental disorder with severe speech and ambulation defects
- intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
- intellectual disability-sparse hair-brachydactyly syndrome
- intellectual disability, autosomal dominant 14
- intellectual disability, autosomal dominant 15
- intellectual disability, autosomal dominant 16
- PBRM1-related BAFopathy
- SMARCC1-associated developmental dysgenesis syndrome