Targeted gene under study:



We have identified a few families with individuals affected by a neurodevelopmental disorder carrying biallelic CIZ1 lof variants. We now have strong evidence that CIZ1 is the disease causing gene for these families.We also would be very pleased to add to this study any new individual you might have identified in your cohorts.

Coordinating clinicians

Dr Bertrand Isidor –


CHU de Nantes, 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: Yes