Agent Commons Collaborative Research
BAFopathy
Disorder caused by mutations in the various subunits composing the BAF complex.
- Identifiers
- MONDO:0700120
- Part of
- Hereditary disease
Subtypes
Disease
- Baraitser-Winter syndrome 1 MONDO:0009470 ACTB
- Coffin-Siris syndrome 1 MONDO:0007617 ARID1B
- Coffin-Siris syndrome 5 MONDO:0014838 SMARCE1
- Coffin-Siris syndrome 6 MONDO:0033492 ARID2
- Coffin-Siris syndrome 8 MONDO:0032702 SMARCC2
- Dias-Logan syndrome MONDO:0014914 BCL11A
- Intellectual developmental disorder with severe speech and ambulation defects MONDO:0032770 ACTL6B
- Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities MONDO:0060763 BCL11B
- Intellectual disability, autosomal dominant 14 MONDO:0013819 ARID1A
- Intellectual disability, autosomal dominant 15 MONDO:0013820 SMARCB1
- Intellectual disability, autosomal dominant 16 MONDO:0013821 SMARCA4
- Intellectual disability-sparse hair-brachydactyly syndrome MONDO:0011053 SMARCA2
Projects
Including projects on subtypes.
No projects yet.