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Marie Joubert..

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Q: Who discovered joubert syndrome?
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How many people have joubert syndrome in the world?

Approximately 500 - 600 people in the word have Joubert Syndrome.


What is the life expectancy of someone with joubert syndrome?

Life expectancy varies depending on the severity of Joubert syndrome and associated complications. Some individuals may have a normal lifespan, while others may have a shortened life expectancy due to respiratory or kidney issues, among other complications. It is essential for individuals with Joubert syndrome to have regular medical care and monitoring to address any potential health concerns.


How many people are affected with Joubert syndrome each year?

Joubert syndrome is a rare genetic disorder, so exact numbers can vary. However, it is estimated to occur in about 1 in 80,000 to 100,000 births worldwide. This makes it a very rare condition.


Is joubert Syndrome dominant or recessive?

autorecessive...both parents have to be carriers.There is a rare X-linked form caused by mutations in the OFD1gene.


Was aase syndrome discovered in 1985?

Aase syndrome


Who discovered Wolfram syndrome?

Wolfram syndrome was first discovered by DJ Wolfram who was a US phycisian at the Mayo clinic


What is Joubert syndrome?

Joubert syndrome is a rare genetic disorder that affects the brain's development, particularly the cerebellum. It is characterized by the absence or underdevelopment of the cerebellar vermis, leading to neurological and physical impairments. Symptoms can include intellectual disability, abnormal eye movements, breathing problems, and kidney abnormalities.


Who discovered moebius syndrome?

Paul Moebius, a neurologist who first described the syndrome in 1888.


What has the author Joseph Joubert written?

Joseph Joubert has written: 'Les carnets de Joseph Joubert' 'Les pensees de Joubert' 'Correspondance de J. Joubert' 'Some of the \\' 'Correspondance de J. Joubert' -- subject(s): Accessible book 'The notebooks of Joseph Joubert' -- subject(s): Notebooks, sketchbooks, Translations into English


Who discovered Jacobsen Syndrome?

Jacobsen Syndrome was first described by Danish physician Petra Jacobsen in 1973. She noticed a distinctive set of symptoms in several patients and identified it as a distinct syndrome.


What is the history of Asperger's Syndrome?

Asperger's Syndrome was discovered by Hans Asperger in 1944.


When was Claudete Joubert born?

Claudete Joubert was born on November 11, 1951, in Londrina, Paran, Brazil.