Helsmoortel-Van Der Aa syndrome (Q50349632)
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An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.
- HVDAS
- MRD28
- autosomal dominant mental retardation 28
- Mental Retardation, Autosomal Dominant 28
- HELSMOORTEL-VAN DER AA SYNDROME; HVDAS
- HELSMOORTEL-VAN DER AA SYNDROME
- Helsmoortel-Van der Aa syndrome
- ADNP syndrome
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Helsmoortel-Van Der Aa syndrome |
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13. |
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Statements
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C160662
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Identifiers
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Sitelinks
Wikipedia(3 entries)
- enwiki ADNP syndrome
- mkwiki Хелсмуртел-Ван дер Аа синдром
- ruwiki Синдром Хельсмуртел-ван дер Аа