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What is Congenital disorder of glycosylation, type In?

What is Congenital disorder of glycosylation, type In?

  • Congenital disorder of glycosylation, type In: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1n involves a defect in the RFT1 gene and is characterized mainly by enlarged liver, seizures, developmental delay, reduced muscle tone and abnormal blood coagulation.

Congenital disorder of glycosylation, type In: Introduction

Types of Congenital disorder of glycosylation, type In:

Broader types of Congenital disorder of glycosylation, type In:

What causes Congenital disorder of glycosylation, type In?

Causes of Congenital disorder of glycosylation, type In: see causes of Congenital disorder of glycosylation, type In

What are the symptoms of Congenital disorder of glycosylation, type In?

Symptoms of Congenital disorder of glycosylation, type In: see symptoms of Congenital disorder of glycosylation, type In

Congenital disorder of glycosylation, type In: Testing

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

Misdiagnosis: see misdiagnosis and Congenital disorder of glycosylation, type In.

How is it treated?

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

Name and Aliases of Congenital disorder of glycosylation, type In

Main name of condition: Congenital disorder of glycosylation, type In

Other names or spellings for Congenital disorder of glycosylation, type In:

CDG1N, CDGIn

 

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