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intellectual disability, autosomal dominant 16 | RareConnect | RareConnect.io

/autosomal dominant disease

/Coffin-Siris syndrome

/intellectual disability, autosomal dominant 16

intellectual disability, autosomal dominant 16

Rare Disease

MONDO:0013821

Also Known As

COFFIN-SIRIS syndrome 4CSS4Coffin-Siris syndrome caused by mutation in SMARCA4MRD16SMARCA4 Coffin-Siris syndromeSMARCA4-related BAFopathyautosomal dominant intellectual disability 16autosomal dominant mental retardation 16intellectual disability, autosomal dominant 16intellectual disability, autosomal dominant type 16mental retardation, autosomal dominant type 16mental retardation, autosomal dominant 16

Definition

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:614609 ↗

GARD

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