Targeted gene under study

OMIM # 616352


We have identified 43 individuals from 27 independent families around the world with biallelic predominantly loss-of-function variants in the ACBD6 gene. Patients uniformly present with a neurodevelopmental syndrome with progressive complex movement disorders. This is a novel gene-disease association for which we have extensive functional analysis data including model organisms and proteomics. We are interested in families with biallelic ultra-rare variants in ACBD6. We would like to receive detailed clinical data, brain MRI images, video of the patients for a deeper phenotyping by movement disorders specialists, genetic data with segregation analysis, and skin biopsies for functional studies.

Coordinating clinicians/researchers

Dr. Reza Maroofian –

Dr. Rauan Kaiyrzhanov –


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