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PPM1D

Welcome

This website provides information on patients with mutations in the PPM1D gene, the type of mutations, management and research options.

The Jansen-de Vries syndrome caused by specific mutations in the PPM1D gene is a multisystem disorder characterized by intellectual disability or developmental delay, behavioral problems, sensitivity to sounds, broad based gait, feeding difficulties, periods of fever and vomiting, small hands/feet and other symptoms. Not all individuals with a mutation in the PPM1D gene have all features.

This website is created to share and collect information about clinical features, management and research projects to gather more knowledge and to provide better care and treatment of patients with mutations in the PPM1D gene.

Sandra Jansen, PhD student, clinical geneticist i.t., department of Human Genetics, Radboudumc, Nijmegen, The Netherlands, sandra.jansen1@radboudumc.nl

Lisenka Vissers, PhD, department of Human Genetics, Radboudumc, Nijmegen, The Netherlands, lisenka.vissers@radboudumc.nl

Cynthia Curry, Professor, MD, cynthia.curry@gmail.com

Bert de Vries, clinical geneticist, department of Human Genetics, Radboudumc, Nijmegen, bert.devries@radboudumc.nl

To share and collect information about clinic management and research projects.

Clinical characteristics

Clinical characteristics

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Patient overview (2)