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BAFopathy

MONDO:0700120

Disorder caused by mutations in the various subunits composing the BAF complex.

0 clinical trials for this condition and its sub-types, 0 tagged with BAFopathy itself.

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Where it sits in the disease tree

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Part of

↑ Hereditary disease (18187)

Sub-types of BAFopathy

ACTL6A-related BAFopathy 0 trials
Baraitser-Winter syndrome 1 0 trials
Coffin-Siris syndrome 1 0 trials
Coffin-Siris syndrome 5 0 trials
Coffin-Siris syndrome 6 0 trials
Coffin-Siris syndrome 8 0 trials
Dias-Logan syndrome 0 trials
PBRM1-related BAFopathy 0 trials
SMARCC1-associated developmental dysgenesis syndrome 0 trials
Intellectual developmental disorder with severe speech and ambulation defects 0 trials
Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities 0 trials
Intellectual disability, autosomal dominant 14 0 trials
Intellectual disability, autosomal dominant 15 0 trials
Intellectual disability, autosomal dominant 16 0 trials
Intellectual disability-sparse hair-brachydactyly syndrome 0 trials

Including sub-types (0) Tagged with BAFopathy (0)

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