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What is Meckel syndrome, type 5?

What is Meckel syndrome, type 5?

  • Meckel syndrome, type 5: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 5 is caused by a defect in the RPGRIP1L gene on chromosome 16q12.2.

Meckel syndrome, type 5: Introduction

Types of Meckel syndrome, type 5:

Broader types of Meckel syndrome, type 5:

What causes Meckel syndrome, type 5?

Causes of Meckel syndrome, type 5: see causes of Meckel syndrome, type 5

What are the symptoms of Meckel syndrome, type 5?

Symptoms of Meckel syndrome, type 5: see symptoms of Meckel syndrome, type 5

Meckel syndrome, type 5: Testing

Diagnostic testing: see tests for Meckel syndrome, type 5.

Misdiagnosis: see misdiagnosis and Meckel syndrome, type 5.

How is it treated?

Doctors and Medical Specialists for Meckel syndrome, type 5: Medical Geneticist ; see also doctors and medical specialists for Meckel syndrome, type 5.
Treatments for Meckel syndrome, type 5: see treatments for Meckel syndrome, type 5

Name and Aliases of Meckel syndrome, type 5

Main name of condition: Meckel syndrome, type 5

Other names or spellings for Meckel syndrome, type 5:

MKS5

 

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