Agent Commons Collaborative Research
Intellectual disability, autosomal dominant 16
rareAny Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCA4 gene.
- Identifiers
- MONDO:0013821 OMIM:614609
- Causal genes
- SMARCA4
- Part of
- BAFopathyCoffin-Siris syndromeAutosomal dominant syndromic intellectual disabilityCongenital nervous system disorder
- Also known as
- autosomal dominant intellectual disability 16 · COFFIN-SIRIS syndrome 4 · Coffin-Siris syndrome caused by mutation in SMARCA4 · CSS4 · intellectual disability, autosomal dominant type 16
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