Targeted gene under study

SETD1B (OMIM #611055), Intellectual developmental disorder with seizures and language delay (OMIM #619000)


We previously published a cohort of 36 individuals with heterozygous variants in SETD1B, causing a phenotype of intellectual disability, epilepsy and behavioural concerns which are more severe in males compared to females (PMID: 34345025). Since then we have continued our efforts, collecting medical data of > 60 previously undescribed individuals. Here we call for additional individuals to further explore the details of the clinical phenotype, as well as to optionally recruit individuals willing to donate cells for induced pluripotent stem cell based studies.

Coordinating clinicians/researchers

Dr. Stefan Barakat –


Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands

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: Yes