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Diseases » Joubert Syndrome 1 » Summary
 

What is Joubert Syndrome 1?

What is Joubert Syndrome 1?

  • Joubert Syndrome 1: 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 1 is linked to a defect on chromosome 9q34.3.

Joubert Syndrome 1: Introduction

Types of Joubert Syndrome 1:

Broader types of Joubert Syndrome 1:

How serious is Joubert Syndrome 1?

Prognosis of Joubert Syndrome 1: 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 1: see complications of Joubert Syndrome 1

What causes Joubert Syndrome 1?

Causes of Joubert Syndrome 1: see causes of Joubert Syndrome 1

What are the symptoms of Joubert Syndrome 1?

Symptoms of Joubert Syndrome 1: see symptoms of Joubert Syndrome 1

Complications of Joubert Syndrome 1: see complications of Joubert Syndrome 1

Joubert Syndrome 1: Testing

Diagnostic testing: see tests for Joubert Syndrome 1.

Misdiagnosis: see misdiagnosis and Joubert Syndrome 1.

How is it treated?

Treatments for Joubert Syndrome 1: see treatments for Joubert Syndrome 1

Name and Aliases of Joubert Syndrome 1

Main name of condition: Joubert Syndrome 1

Other names or spellings for Joubert Syndrome 1:

Cerebellooculorenal Syndrome 1, CORS1, JBTS1

 

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