Targeted syndrom under study

* 618628, # 618665


METTL5 is a member of the METTL superfamily that has only recently been associated with a neurodevelopmental disorder characterized by intellectual disability, microcephaly and facial dysmorphisms. Until now, only seven affected individuals from three unrelated families have been reported. With this collaboration, we aim to better delineate che clinical and molecular spectrum of METTL5-related disorder. We plan to collect clinical data, neuroimaging and neurophysiological information, as well as clinical pictures for dysmorphological assessment. 

Coordinating clinicians/researchers

Elisa Cali –
Reza Maroofian –


University College of London

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