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Coffin-Siris syndrome 1 | RareConnect | RareConnect.io

/autosomal dominant disease

/Coffin-Siris syndrome

/Coffin-Siris syndrome 1

Coffin-Siris syndrome 1

Rare Disease

MONDO:0007617

Also Known As

fifth digit syndromeARID1B-related BAFopathyCOFFIN-SIRIS syndrome 1CSS1Coffin-Siris syndrome 1MRD12autosomal dominant mental retardation 12hypertrichosis, hyperkeratosis, intellectual disability, and distinctive facial featureshypertrichosis, hyperkeratosis, mental retardation, and distinctive facial featuresintellectual disability, autosomal dominant 12mental retardation, autosomal dominant type 12COFFIN-SIRIS syndromeCSSmental retardation, autosomal dominant 12

Definition

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1B 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:135900 ↗OMIM:609943 ↗OMIM:614562 ↗

GARD

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