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

All diseases Rare only
Disease Subtypes
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
PBRM1-related BAFopathy
SMARCC1-associated developmental dysgenesis syndrome
Intellectual developmental disorder with severe speech and ambulation defects
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
Intellectual disability, autosomal dominant 14
Intellectual disability, autosomal dominant 15
Intellectual disability, autosomal dominant 16
Intellectual disability-sparse hair-brachydactyly syndrome

Rare disease

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