Targeted genes under study:

EPG5 (OMIM *615068, #242840; ORPHA:1493)


Vici syndrome (OMIM 242840) is a severe, early-onset neurodevelopmental disorder characterized by the key features of callosal agenesis, cataracts, cardiomyopathy, generalized hypopigmentation, and combined immunodeficiency. Since its recognition as a distinct entity, additional cases have suggested an extended phenotype to less specific neurodevelopmental phenotypes of more moderate severity and adolescent-onset movement disorders. The term “EPG5-related disorder” refers to biallelic EPG5 variants within this entire phenotypic spectrum.

Coordinating clinicians

Heinz Jungbluth –

Hormos Dafsari – 


Department of Paediatric Neurology, Neuromuscular Service, Evelina’s Children Hospital, Guy’s and St Thomas’ Hospitals NHS Foundation Trust, London, UK;

Department of Pediatrics, University Hospital Cologne, Cologne, Germany.

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