Targeted syndrome/gene under study:

OMIM #  618249


We have identified 8 individuals from 7 independent families around the world with biallelic variants in the NDUFA13 gene. Patients present with a spectrum of neurodevelopmental abnormalities with progressive complex movement disorders, cerebellar ataxia, neurosensory abnormalities and epilepsy. This study is aimed at delineating the phenotype of recently described gene-disease association. Currently, with only two families reported, the clinical and molecular spectrum of NDUFA13-related Complex I deficiency remains poorly characterized. We are interested in families with biallelic ultra-rare variants in NDUFA13. We would like to receive detailed clinical data, brain MRI images, video of the patients for a deeper phenotyping, genetic data with segregation analysis, and skin biopsies for functional studies.      

Coordinating clinicians

Dr. Reza Maroofian –

Dr. Rauan Kaiyrzhanov – 


Institute of Neurology, University College London, London, UK 

Specific requirements beyond clinical data and genotype data sharing:

1- Re-analysis of DNA samples: No

2- Resampling of patients: No

3- Linked to a translational/basic research project: No