Targeted gene(s)/phenotype under study

Gene: SP9 / Neurodevelopmental disorders 


We identified 5 individuals from 5 unrelated families presenting with neurodevelopmental disorders (ID, ASD, epilepsy, or epileptic encephalopathy) caused by SP9 de novo heterozygous variants. Functional studies are underway for the variants identified in our patients. We aim to find other families with SP9 heterozygous variants to further delineate this genetic disease.

Coordinating clinicians /researchers 

  • Dr Colin Estelle
  • Dr Tessarech Marine



Angers University Hospital, France

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