Man1b1-Cdg

Man1b1-Cdg(来自ICD-11)

别称:

Carbohydrate Deficient Glycoprotein Syndrome Type Ii Due to Man1b1 Deficiency

Congenital Disorder of Glycosylation Type Ii Due to Man1b1 Deficiency

Congenital Disorder of Glycosylation Type 2 Due to Man1b1 Deficiency

Intellectual Disability-Truncal Obesity Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Man1b1-Cdg, also known as carbohydrate deficient glycoprotein syndrome type ii due to man1b1 deficiency, is related to developmental and epileptic encephalopathy 36 and immunodeficiency 47. An important gene associated with Man1b1-Cdg is MAN1B1 (Mannosidase Alpha Class 1B Member 1). Affiliated tissues include skin and brain, and related phenotypes are intellectual disability and global developmental delay

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