Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.
Comprehensive, easy-to-understand information about this condition
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Coffin-Siris syndrome 1
MONDO:0007617
Baraitser-Winter syndrome 1
MONDO:0009470
intellectual disability-sparse hair-brachydactyly syndrome
MONDO:0011053
intellectual disability, autosomal dominant 14
MONDO:0013819
intellectual disability, autosomal dominant 15
MONDO:0013820
intellectual disability, autosomal dominant 16
MONDO:0013821