This study aims to answer a key question in the field of rare genetic diseases by determining the prevalence of deleterious variants at RNA level in undiagnosed patients with intellectual disability and/or neonatal hypotonia. This study will put an end to diagnostic erraticism in a number of patients.
Finally, the results of this study will make it possible to compare the two types of tissue used for RNAseq, with a view to facilitating the implementation of this analysis method in the diagnostic setting.
Male or female, aged 0-99 years
Patient with neonatal intellectual disability and/or hypotonia followed at one of three inclusion centers
Patient or parent has been informed about the study and has signed an informed consent form
Genetic analysis by high-throughput DNA sequencing (gene panel, exome, genome) did not identify any abnormality explaining the patient's phenotype.
Patient deprived of liberty
Pregnant or breast-feeding woman,
The person required to sign the consent form does not understand French
Person under guardianship and/or curatorship