Gene/phenotype/disorder under study
SET gene (#600960), Intellectual developmental disorder (OMIM #618106)
Abstract
We aim to establish a cohort to investigate the phenotype of patients carrying pathogenic or likely pathogenic variants in the SET gene. Pathogenic SET variants are responsible for an autosomal dominant intellectual developmental disorder. Our objectives are to better delineate the developmental and neurological phenotype, characterise the associated dysmorphisms, and assess the clinical evolution into adulthood. We remain available for any further information.
Coordinating clinicians
Candice SAURIN – candice.saurin@chu-rouen.fr
Juliette COURSIMAULT
Institution
Rouen University Hospital, Genetics Department, France
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No