Reported patients harbouring pathogenic variants in NDUFA1 or NDUFA10 presented predominantly with Leigh syndrome or with Leigh‐like symptoms, whilst the single case of early‐onset NDUFA11‐related mitochondrial disease presented as fatal encephalocardiomyopathy (Fernandez‐Moreira et al, 2007; Berger et al, 2008; Hoefs et al, 2010; Minoia et al, 2017). Here, NDUFA11 is linked to mitochondrial disease.