Intellectual disability, autosomal dominant 16
MONDO:0013821Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.
Also known as: COFFIN-SIRIS syndrome 4, CSS4, Coffin-Siris syndrome caused by mutation in SMARCA4, MRD16, SMARCA4 Coffin-Siris syndrome, SMARCA4-related BAFopathy, autosomal dominant intellectual disability 16, intellectual disability, autosomal dominant 16
38 clinical trials for this condition and its sub-types.
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Disease
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Human disease
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Developmental defect during embryogenesis
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Coffin-Siris syndrome
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