Any BAFopathy in which the cause of the disease is a mutation in the BCL11B gene.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
Coffin-Siris syndrome 1
MONDO:0007617
Myhre syndrome
MONDO:0007688
KBG syndrome
MONDO:0007846
Rubinstein-Taybi syndrome due to CREBBP mutations
MONDO:0008393
Mowat-Wilson syndrome
MONDO:0009341
Baraitser-Winter syndrome 1
MONDO:0009470