Coffin-Siris syndrome 2 (Q50349618)
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An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ARID1A on chromosome 1p36.11.
- MRD14
- autosomal dominant mental retardation 14
- CSS2
- Mental Retardation, Autosomal Dominant type 14
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 14; MRD14
- MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
Language | Label | Description | Also known as |
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English | Coffin-Siris syndrome 2 |
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ARID1A on chromosome 1p36.11. |
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Statements
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Identifiers
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