Congenital Disorder of Glycosylation, Type Iy (CDG1Y)

Congenital Disorder of Glycosylation, Type Iy(来自ICD-11)
别称:
Cdg1y
Congenital Disorder of Glycosylation Type Iy
Cdg-Iy
Carbohydrate Deficient Glycoprotein Syndrome Type Iy
Congenital Disorder of Glycosylation Type 1y
Congenital Disorder of Glycosylation 1y
Cdg Syndrome Type Iy
Ssr4-Cdg
Cdg Iy
Cdgiy
Glycosylation, Congenital Disorder of, Type Iy
Ssr4-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation Iy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Disorder of Glycosylation, Type Iy, also known as cdg1y, is related to congenital disorder of glycosylation, type in and microcephaly. An important gene associated with Congenital Disorder of Glycosylation, Type Iy is SSR4 (Signal Sequence Receptor Subunit 4). Affiliated tissues include eye and kidney, and related phenotypes are intellectual disability and global developmental delay
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参考文献
MALACARDS
XL
XLD
Newborn
<1/1000000
1
2
2

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