Miller–Dieker lissencephaly syndrome (Q2200977)
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A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients.
- Miller-Dieker syndrome
- MDS
- Miller-Dieker lissencephaly syndrome
- Telomeric deletion 17p
- Monosomy 17p13.3
- Lissencephaly due to 17p13.3 deletion
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Miller–Dieker lissencephaly syndrome |
A syndrome characterized by classical lissencephaly and distinct facial features. Visible and submicroscopic deletions of 17p13.3, including the LIS1 gene, are found in almost 100% of patients. |
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Statements
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MDS (English)
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MDS (German)
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MDS (Bosnian)
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C124852
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Identifiers
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Sitelinks
Wikipedia(14 entries)
- arwiki متلازمة ميلر-دياكر
- azwiki Miller-Diker Sindromu
- bswiki Miller–Diekerov sindrom
- dewiki Miller-Dieker-Syndrom
- enwiki Miller–Dieker syndrome
- eswiki Síndrome de Miller-Dieker
- fiwiki Miller–Diekerin oireyhtymä
- frwiki Syndrome de Miller-Dieker
- itwiki Sindrome di Miller-Dieker
- nlwiki Syndroom van Miller-Dieker
- plwiki Zespół Millera-Diekera
- ptwiki Síndrome de Miller-Dieker
- ruwiki Синдром лиссэнцефалии Миллера — Дикера
- trwiki Miller-Dieker lissensefali sendromu