Congenital Disorder of Glycosylation, Type Ix (CDG1X)

Congenital Disorder of Glycosylation, Type Ix(来自ICD-11)
别称:
Cdg1x
Congenital Disorder of Glycosylation Type Ix
Congenital Disorder of Glycosylation 1x
Cdg Ix
Cdg-Ix
Cdgix
Carbohydrate Deficient Glycoprotein Syndrome Type Ix
Glycosylation, Congenital Disorder of, Type Ix
Congenital Disorder of Glycosylation Type 1x
Stt3b-Congenital Disorder of Glycosylation
Congenital Disorder of Glycosylation Ix
Cdg Syndrome Type Ix
Stt3b-Cdg
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Congenital Disorder of Glycosylation, Type Ix, also known as cdg1x, is related to stt3a-cdg and stt3b-cdg and thrombophilia due to thrombin defect. An important gene associated with Congenital Disorder of Glycosylation, Type Ix is STT3B (STT3 Oligosaccharyltransferase Complex Catalytic Subunit B). Affiliated tissues include testes and bone marrow, and related phenotypes are intellectual disability and seizure
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参考文献
MALACARDS
AR
Newborn
<1/1000000
1
4
2

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