Targeted syndrom under study

XRCC4 (OMIM #616541)


Dear collaborators,

We are currently working on the constitution of a cohort for patients with microcephalic dwarfism by biallelic variation in the XRCC4 gene. To date, there are 15 patients reported in the literature. We mainly hope to expand the phenotypic spectrum in this rare disease.

Thank you for your interest in this project.

We remain at your disposal for any further information


Coordinating clinicians/researchers

Dr CUINAT Silvestre – 
Dr PUTOUX Audrey –


Hospices Civils de Lyon HCL – 69500  – 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: No