Targeted gene under study

Smith-Kingsmore syndrome MTOR germinal (OMIM 616638 , ORPHA 457485)


Together with the Dijon team, we aim to better define the clinical, psychiatric and neuropsychological characteristics of people with germline MTOR variants, and to describe an epigenetic signature. We would be delighted to collect clinical data, neuropsychological, brain MRI, growth curves and a DNA sample. The Montpellier IRB is in the process of notifying us.

Coordinating clinicians/researchers

David Genevieve –


Centre Hospitalier Universitaire de Montpellier, France

Specific requirements beyond clinical data and genotype data sharing:

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: No