Potocki-Luspski syndrome (Q39656409)
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A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has material basis in duplication of a region of chromosome 17p11.2.
- chromosome 17p11.2 duplication syndrome
- 17p11.2 microduplication syndrome
- trisomy 17p11.2
- PTLS
- POTOCKI-LUPSKI SYNDROME
- 17p11.2 Duplication Syndrome
- POTOCKI-LUPSKI SYNDROME; PTLS
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Potocki-Luspski syndrome |
A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has material basis in duplication of a region of chromosome 17p11.2. |
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Statements
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C124846
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Identifiers
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Sitelinks
Wikipedia(8 entries)
- bswiki Potocki–Lupskijev sindrom
- dewiki Mikroduplikationssyndrom 17p11.2
- enwiki Potocki–Lupski syndrome
- fiwiki Potocki–Lupskin oireyhtymä
- frwiki Syndrome de Potocki-Lupski
- itwiki Sindrome di Potocki-Lupski
- mkwiki Поточки-Лупски синдром
- plwiki Zespół Potockiej-Lupskiego