Congenital Disorder of Glycosylation, Type Iil (CDG2L)

Congenital Disorder of Glycosylation, Type Iil(来自ICD-11)
别称:
Congenital Disorder of Glycosylation Type Iil
Cdg2l
Congenital Disorder of Glycosylation Type 2l
Cdg Syndrome Type Iil
Cog6-Cgd
Cdg Iil
Cdg-Iil
Cdgiil
Glycosylation, Congenital Disorder of, Type Iil
Cog6-Ongenital Disorder of Glycosylation
Congenital Disorder of Glycosylation 2l
Cdgiidl
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Congenital Disorder of Glycosylation, Type Iil, also known as congenital disorder of glycosylation type iil, is related to galactosemia iii and galactosemia i, and has symptoms including seizures An important gene associated with Congenital Disorder of Glycosylation, Type Iil is COG6 (Component Of Oligomeric Golgi Complex 6), and among its related pathways/superpathways are Metabolism of proteins and Vesicle-mediated transport. Affiliated tissues include liver and brain, and related phenotypes are global developmental delay and hypohidrosis
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参考文献
MALACARDS
AR
Newborn
<1/1000000
9
26
7

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