Targeted gene under study

ZMYM2 (OMIM #602221), Neurodevelopmental- Craniofacial syndrome with variable renal and cardiac abnormalities (OMIM #619522)


Previously, loss-of-function variants in ZMYM2 have been described in affected individuals with a neurodevelopmental phenotype and often congenital abnormalities of the kidney and urinary tract (CAKUT). After identifying a number of individuals in our clinic with ZMYM2 variants that only presented with neurodevelopmental delay, we have started to collect a larger cohort to further delineate the full clinical spectrum of this recently described disorder. We are calling for additional patients to join this clinical cohort study, which also includes episignature generation.

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