Each form of intellectual disability under study is a rare disease in its own right, and it is therefore difficult to study the variability of its expression. It therefore appears necessary to study large series of patients with intellectual disabilities. The objective is to identify variants in phenotype-modifying genes in patients with intellectual disability.
Patients with Intellectual Disability or related but not affected by them
Major or minor with autorisation of legal representative
Exome sequencing in Bordeaux University Hospital between 2018 and 2024
Refusal to participate in research protocols
Refusal to participate expressed following receipt of information letter.
Patients with intellectual disabilities or related but not affected by them
Case-control
Retrospective
Not listed
Variants in phenotype-modifying genes
Identifying variants in phenotype-modifying genes in patients with intellectual disability.
Phenotypic traits
Correlation phenotypic traits with additional diagnostic variants
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