Coffin-Siris syndrome 3 (Q50349619)
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An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23.
- MRD15
- autosomal dominant mental retardation 15
- CSS3
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 15; MRD15
- Mental Retardation, Autosomal Dominant type 15
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 15
- COFFIN-SIRIS SYNDROME 3
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Coffin-Siris syndrome 3 |
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SMARCB1 on chromosome 22q11.23. |
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