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intellectual disability, autosomal dominant 14 | RareConnect | RareConnect.io

/autosomal dominant disease

/Coffin-Siris syndrome

/intellectual disability, autosomal dominant 14

intellectual disability, autosomal dominant 14

Rare Disease

MONDO:0013819

Also Known As

ARID1A Coffin-Siris syndromeARID1A-related BAFopathyCSS2Coffin-Siris syndrome caused by mutation in ARID1AMRD14autosomal dominant intellectual disability 14autosomal dominant mental retardation 14intellectual disability, autosomal dominant 14intellectual disability, autosomal dominant type 14mental retardation, autosomal dominant type 14COFFIN-SIRIS syndrome 2Coffin-Siris syndrome 2mental retardation, autosomal dominant 14

Definition

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A 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:614607 ↗

GARD

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