Coffin-Siris syndrome 1 (Q50349616)
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An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ARID1B on chromosome 6q25.3.
- autosomal dominant mental retardation 12
- fifth digit syndrome
- CSS1
- MRD12
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Coffin-Siris syndrome 1 |
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ARID1B on chromosome 6q25.3. |
|
Statements
1 reference
Identifiers
1 reference
1 reference