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Joubert syndrome

Background

Joubert syndrome is a rare neurological condition characterised by developmental delay, floppiness (see entry, Hypotonia), lack of muscle control (ataxia) and difficulty controlling horizontal eye movements (oculomotor apraxia). Other symptoms include abnormal breathing patterns (hyperpnea), kidney abnormalities and a characteristic facial appearance. Individuals with Joubert syndrome may show some or all of these features and, in addition, may be differently affected by the severity of symptoms.

What are the symptoms? View What are the symptoms?

Medical text written May 2003 by Contact a Family. Approved May 2003 by Professor M Patton, Professor of Medical Genetics, St George's Hospital Medical School, London, UK.

 

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