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What is Congenital disorder of glycosylation type IIH?

What is Congenital disorder of glycosylation type IIH?

  • Congenital disorder of glycosylation type IIH: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IIh is caused by a defect on chromosome 16q22.1 and involves a defect on the COG8 gene.

Congenital disorder of glycosylation type IIH: Introduction

Types of Congenital disorder of glycosylation type IIH:

Broader types of Congenital disorder of glycosylation type IIH:

What causes Congenital disorder of glycosylation type IIH?

Causes of Congenital disorder of glycosylation type IIH: see causes of Congenital disorder of glycosylation type IIH

What are the symptoms of Congenital disorder of glycosylation type IIH?

Symptoms of Congenital disorder of glycosylation type IIH: see symptoms of Congenital disorder of glycosylation type IIH

Congenital disorder of glycosylation type IIH: Testing

Diagnostic testing: see tests for Congenital disorder of glycosylation type IIH.

Misdiagnosis: see misdiagnosis and Congenital disorder of glycosylation type IIH.

How is it treated?

Doctors and Medical Specialists for Congenital disorder of glycosylation type IIH: Medical Geneticist ; see also doctors and medical specialists for Congenital disorder of glycosylation type IIH.
Treatments for Congenital disorder of glycosylation type IIH: see treatments for Congenital disorder of glycosylation type IIH

Name and Aliases of Congenital disorder of glycosylation type IIH

Main name of condition: Congenital disorder of glycosylation type IIH

Other names or spellings for Congenital disorder of glycosylation type IIH:

CDG IIh, CDG2h

 

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