Targeted gene under study

CCDC82 (OMIM 619870)


Homozygous loss-of-function variants in the CCDC82 gene have recently been associated with intellectual disability, microcephaly and spastic paraplegia. Few cases have been reported in literature (one family and a single case) (PMID: 35118659; PMID: 35373332). We recently identified an additional patient with compound heterozygous loss-of function variants in CCDC82, with a phenotype overlapping that of the already reported patients. However, since only a few cases have been reported, the knowledge regarding the clinical spectrum and natural history remains limited. In this project, we aim to collect clinical, imaging and genetic data of additional patients with bi-allelic variants in CCDC82 in order to better define the phenotypic spectrum of this disorder.

Coordinating clinicians/researchers

Marije Meuwissen, MD, PhD –

Liene Thys, MD –


Centre of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium

Department of Paediatric Neurology, Antwerp University Hospital/University of Antwerp, Edegem, Belgium

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