Preferred Name | Miller-Dieker lissencephaly syndrome | |
Synonyms |
MDLS |
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Definitions |
(MDLS) - A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition. |
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ID |
http://identifiers.org/omim/247200 |
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altLabel |
MDLS |
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definition |
(MDLS) - A contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition. |
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id |
OMIM:247200 |
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notation |
OMIM:247200 |
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prefLabel |
Miller-Dieker lissencephaly syndrome |
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subClassOf |
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