Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene.
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coenzyme Q10 deficiency, primary, 1
MONDO:0011829
autosomal recessive ataxia due to ubiquinone deficiency
MONDO:0012784
familial steroid-resistant nephrotic syndrome with sensorineural deafness
MONDO:0013836
deafness-encephaloneuropathy-obesity-valvulopathy syndrome
MONDO:0013837
encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
MONDO:0013840
neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
MONDO:0014562