Coffin-Siris syndrome 4 (Q50349620)
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An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2.
- MRD16
- autosomal dominant mental retardation 16
- CSS4
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 16; MRD16
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 16
- Mental Retardation, Autosomal Dominant type 16
- COFFIN-SIRIS SYNDROME 4
Language | Label | Description | Also known as |
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English | Coffin-Siris syndrome 4 |
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SMARCA4 on chromosome 19p13.2. |
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