Congenital Disorder of Glycosylation, Type Ir (CDG1R)

Congenital Disorder of Glycosylation, Type Ir(来自ICD-11)

别称:

Congenital Disorder of Glycosylation Type Ir

Cdg1r

Congenital Disorder of Glycosylation 1r

Cdg Ir

Cdg-Ir

Cdgir

Carbohydrate Deficient Glycoprotein Syndrome Type Ir

Glycosylation, Congenital Disorder of, Type Ir

Congenital Disorder of Glycosylation Type 1r

Congenital Disorder of Glycosylation Ir

Cdg Syndrome Type Ir

Ddost-Cdg

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Ir, also known as congenital disorder of glycosylation type ir, is related to hypotonia and otitis media, and has symptoms including constipation An important gene associated with Congenital Disorder of Glycosylation, Type Ir is DDOST (Dolichyl-Diphosphooligosaccharide--Protein Glycosyltransferase Non-Catalytic Subunit). Affiliated tissues include liver and skin, and related phenotypes are seizure and failure to thrive

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