Targeted gene under study

DIAPH1 (OMIM : 602121)


Our aim is to dive deep into the clinical and functional implications of biallelic variants in the DIAPH1 gene and how they lead to a severe global developmental delay/intellectual disability, vision impairment, microcephaly, seizures and immunological features. We have so far recruited over 18 families with a total of 23 affected children globally to our cohort to provide us with an invaluable resource and data for studying DIAPH1-related disorder. We have been collecting extensive clinical, immunological, and genetic data to help us better delineate this new and poorly characterised rare disorder to aide and support our functional studies, which include animal model, biochemical and immunological investigations. To enable deep genotype-phenotype correlations, we are collecting detailed clinical data, brain MRI images, EEG traces, photos and videos of the patients as well as genetic data with segregation analysis and skin biopsies and dried blood spots if possible for further functional studies.

Coordinating clinicians/researchers

Dr. Reza Maroofian –
Valentina Galassi Deforie –
Dr. Stephanie Efthymiou –


Institute of Neurology, University College London, London, UK

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