Cornelia De Lange Syndrome (BDLS)

Cornelia De Lange Syndrome(来自ICD-11)
别称:
Brachmann-De Lange Syndrome
De Lange Syndrome
Brachmann De Lange Syndrome
Cdls
Bdls
Typus Degenerativus Amstelodamensis
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Cornelia De Lange Syndrome, also known as brachmann-de lange syndrome, is related to cornelia de lange syndrome 1 and cornelia de lange syndrome 3 with or without midline brain defects. An important gene associated with Cornelia De Lange Syndrome is NIPBL (NIPBL Cohesin Loading Factor), and among its related pathways/superpathways are Cell Cycle, Mitotic and EML4 and NUDC in mitotic spindle formation. The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include eye and bone, and related phenotypes are intellectual disability and high palate
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相关ID:
MESH:D003635

基础信息

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参考文献
MALACARDS
XLD
AD
XL
Antenatal
1-9/100000
85
568
112

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