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Hence, clinicogenetic features of NDUFA9-related disorder remain largely unexplored. To delineate the pheno-genotypic spectrum of NDUFA9-related disorder, we screened genetic databases worldwide and collected phenotypic data on individuals with biallelic NDUFA9 variants, which were functionally investigated when possible. Eight new and four reported cases were identified. Neurodevelopmental delay followed by motor deterioration and seizures were the most common presenting features. Neurodevelopmental disorder was observed in 90% of cases surviving beyond the age of 4 months. Neurological deterioration always started in the first decade. Among ten affected surviving beyond early infancy, major clinical features included dystonia (100%), feeding difficulties\/dysphagia\/failure to thrive and pyramidal signs (80%), seizures and muscle weakness\/atrophy (70%), and moderate-to-severe intellectual disability (60%). All showed basal ganglia MRI signal alterations, with atrophy (50%) and swelling (25%). Four individuals died by the age of 13 years. In addition to four known variants, we identified five new NDUFA9 variants and pinpointed Arg360 (NP_004993.1) as a mutational hotspot. Protein modelling suggested that variants cause NADH:ubiquinone oxidoreductase subunit A9 (NDUFA9) misfolding and\/or disruption of binding interfaces. Loss of fully assembled complex I with decreased steady-state NDUFA9 levels and\/or complex I activity was documented in fibroblasts from three affected individuals. Our study strengthens the evidence that biallelic NDUFA9 variants cause mitochondrial complex I deficiency presenting with a broad spectrum of progressive neurodevelopmental disorder, often accompanied by prominent dystonia, and a characteristic Leigh syndrome MRI pattern.<\/jats:p>","DOI":"10.1093\/braincomms\/fcaf369","type":"journal-article","created":{"date-parts":[[2025,9,23]],"date-time":"2025-09-23T17:50:15Z","timestamp":1758649815000},"source":"Crossref","is-referenced-by-count":1,"title":["Biallelic <i>NDUFA9<\/i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency"],"prefix":"10.1093","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4706-6245","authenticated-orcid":false,"given":"Francesca","family":"Magrinelli","sequence":"first","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucie S","family":"Taylor","sequence":"additional","affiliation":[{"name":"Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University , Newcastle upon Tyne NE2 4HH ,","place":["United Kingdom"]},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne NE1 4LP ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sahar","family":"Sedighzadeh","sequence":"additional","affiliation":[{"name":"Department of Biological Science, Faculty of Science, Shahid Chamran University of Ahvaz , Ahvaz 6135783151 ,","place":["Iran"]},{"name":"Dr Shahrooei Laboratory , Tehran 1476693993 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dalila","family":"Moualek","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CHU Mustapha Bacha , Alger 16000 ,","place":["Algeria"]},{"name":"Universit\u00e9 Benyoucef Benkhedda , Alger 16000 ,","place":["Algeria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4730-5322","authenticated-orcid":false,"given":"Mariasavina","family":"Severino","sequence":"additional","affiliation":[{"name":"Neuroradiology Unit, IRCCS Istituto Giannina Gaslini , Genova 16147 ,","place":["Italy"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2915-951X","authenticated-orcid":false,"given":"Daniel N","family":"Grba","sequence":"additional","affiliation":[{"name":"Medical Research Council Mitochondrial Biology Unit, University of Cambridge , Cambridge CB2 0XY ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charlotte L","family":"Alston","sequence":"additional","affiliation":[{"name":"Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University , Newcastle upon Tyne NE2 4HH ,","place":["United Kingdom"]},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne NE1 4LP ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Champion","sequence":"additional","affiliation":[{"name":"Department of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, Guy's and St Thomas\u2019 NHS Foundation Trust , London SE1 7EH ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali Reza","family":"Tavasoli","sequence":"additional","affiliation":[{"name":"Department of Neurology, Barrow Neurological Institute at Phoenix Children\u2019s Hospital , Phoenix, AZ 85016 ,","place":["USA"]},{"name":"Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences , Tehran 1419733151 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karine","family":"Lascelles","sequence":"additional","affiliation":[{"name":"Children's Neuroscience Centre, Evelina London Children's Hospital, Guy's and St Thomas\u2019 NHS Trust , London SE1 7EH ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-0492","authenticated-orcid":false,"given":"Vykuntaraju K","family":"Gowda","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS , Bengaluru, Karnataka 560029 ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Varunvenkat M","family":"Srinivasan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS , Bengaluru, Karnataka 560029 ,","place":["India"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sahand Tehrani","family":"Fateh","sequence":"additional","affiliation":[{"name":"School of Medicine, Tehran University of Medical Sciences (TUMS) , Tehran 1416634793 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Kordi-Tamandani","sequence":"additional","affiliation":[{"name":"Department of Biology, Faculty of Science, University of Sistan and Baluchestan , Zahedan 9816745785 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Khajeh","sequence":"additional","affiliation":[{"name":"Children and Adolescent Health Research Center, School of Medicine, Resistant Tuberculosis Institute, Zahedan University of Medical Sciences , Zahedan 9816743463 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saeedeh","family":"Yaghoubi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, School of Medicine, Children and Adolescents Health Research Center, Research Institute of Cellular and Molecular Science in Infectious Diseases, Zahedan University of Medical Sciences , Zahedan 9816743463 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Dominik","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meisam","family":"Babaei","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, North Khorasan University of Medical Science , Bojnourd 9417694735 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohsen","family":"Javadzadeh","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Shahid Beheshti University of Medical Sciences , Tehran 1983969367 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamileh Rezazadeh","family":"Varaghchi","sequence":"additional","affiliation":[{"name":"Hasti Genetic Counseling Center of Welfare Organization of Southern Khorasan , Birjand 9719866879 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad","family":"Miryounesi","sequence":"additional","affiliation":[{"name":"Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences , Tehran 1985717413 ,","place":["Iran"]},{"name":"Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences , Tehran 1985717443 ,","place":["Iran"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ehsan","family":"Ghayoor Karimiani","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meriem","family":"Tazir","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CHU Mustapha Bacha , Alger 16000 ,","place":["Algeria"]},{"name":"Universit\u00e9 Benyoucef Benkhedda , Alger 16000 ,","place":["Algeria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lamia","family":"Ali Pacha","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CHU Mustapha Bacha , Alger 16000 ,","place":["Algeria"]},{"name":"Universit\u00e9 Benyoucef Benkhedda , Alger 16000 ,","place":["Algeria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kailash P","family":"Bhatia","sequence":"additional","affiliation":[{"name":"Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London , London WC1N 3BG ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W","family":"Taylor","sequence":"additional","affiliation":[{"name":"Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University , Newcastle upon Tyne NE2 4HH ,","place":["United Kingdom"]},{"name":"NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne NE1 4LP ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6763-1542","authenticated-orcid":false,"given":"Reza","family":"Maroofian","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,9,23]]},"reference":[{"issue":"2","key":"2025100814170768000_fcaf369-B1","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1038\/s41580-021-00415-0","article-title":"The assembly, regulation and function of the mitochondrial respiratory chain","volume":"23","author":"Vercellino","year":"2022","journal-title":"Nat Rev Mol Cell 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