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Diseases » Joubert Syndrome 6 » Summary
 

What is Joubert Syndrome 6?

What is Joubert Syndrome 6?

  • Joubert Syndrome 6: Joubert syndrome is a rare congenital neurological disorder characterized mainly by a brain anomaly where the cerebellar vermis is underdeveloped. This part of the brain is responsible to for balance and coordination. Most of the symptoms are of a neurological type. There are ten subtypes of the disorder, each with a different origin for the genetic anomaly. Type 6 is linked to a defect on chromosome 8q21.13-q22.1.

Joubert Syndrome 6: Introduction

Types of Joubert Syndrome 6:

Broader types of Joubert Syndrome 6:

How serious is Joubert Syndrome 6?

Prognosis of Joubert Syndrome 6: The prognosis depends mainly on how much of the cerebellar vermis portion of the brain is missing - symptoms can vary from mild to severe. Irregular breathing patterns tend to improve after about a year though apnea usually persists.
Complications of Joubert Syndrome 6: see complications of Joubert Syndrome 6

What causes Joubert Syndrome 6?

Causes of Joubert Syndrome 6: see causes of Joubert Syndrome 6

What are the symptoms of Joubert Syndrome 6?

Symptoms of Joubert Syndrome 6: see symptoms of Joubert Syndrome 6

Complications of Joubert Syndrome 6: see complications of Joubert Syndrome 6

Joubert Syndrome 6: Testing

Diagnostic testing: see tests for Joubert Syndrome 6.

Misdiagnosis: see misdiagnosis and Joubert Syndrome 6.

How is it treated?

Treatments for Joubert Syndrome 6: see treatments for Joubert Syndrome 6

Name and Aliases of Joubert Syndrome 6

Main name of condition: Joubert Syndrome 6

Other names or spellings for Joubert Syndrome 6:

JBTS6

 

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