Kleefstra syndrome

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Kleefstra syndrome

A rare genetic intellectual disability syndrome characterized by intellectual disability childhood hypotonia severe expressive speech delay autism spectrum disorder and a distinctive facial appearance with a spectrum of additional clinical features.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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Kleefstra syndrome?

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Clinical Trials

For a list of clinical trials in this disease area, please click here.