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Pitt Hopkins Syndromes

Background

Pitt Hopkins Syndrome was first described in 1978 but was not commonly recognised until 2007 when the underlying genetic cause of the condition was identified. The condition is characterised by severe learning disability, breathing abnormalities and characteristic facial features.

What are the symptoms? View What are the symptoms?

Medical text written January 2009 by Jill Clayton-Smith, Consultant Clinical Geneticist, St Mary’s Hospital Manchester, UK.

 

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