GenIDA: An international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders
In Journal of Neural Transmission
Abstract Intellectual disability with or without manifestations of autism and/or epilepsy affects 1-2% of the population, and it is estimated that more than 30-50% of these cases have a single genetic cause. More than 1000 genes and recurrent chromosomal abnormalities are involved in these genetic forms of neurodevelopmental disorders, which often remain insufficiently described in terms of clinical spectrum, associated medical problems, etc., due to their rarity and the often-limited number of patients’ phenotypes reported.
GenIDA, une base de données participative internationale permettant de mieux connaître l’histoire naturelle et les comorbidités des formes génétiques de troubles neurodéveloppementaux
In Assises de génétique humaine et médicale
Abstract