Congenital Disorder of Glycosylation, Type Iid (CDG2D)

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

别称:

Congenital Disorder of Glycosylation Type Iid

Cdg2d

Cdg Iid

Cdgiid

Congenital Disorder of Glycosylation Type 2d

Cdg-Iid

Carbohydrate Deficient Glycoprotein Syndrome Type Iid

Glycosylation, Congenital Disorder of, Type Iid

Congenital Disorder of Glycosylation, Type Iiid

B4galt1-Congenital Disorder of Glycosylation

Beta-1,4-Galactosyltransferase Deficiency

Congenital Disorder of Glycosylation 2d

Cdg Syndrome Type Iid

B4galt1-Cdg

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Congenital Disorder of Glycosylation, Type Iid, also known as congenital disorder of glycosylation type iid, is related to congenital disorder of glycosylation, type in and hydrocephalus. An important gene associated with Congenital Disorder of Glycosylation, Type Iid is B4GALT1 (Beta-1,4-Galactosyltransferase 1), and among its related pathways/superpathways are Infectious disease and Metabolism of proteins. Affiliated tissues include liver and skin, and related phenotypes are elevated circulating creatine kinase concentration and infantile muscular hypotonia

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