has material basis in germline mutation in COQ9 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome https://www.malacards.org/card/coenzyme_q10_deficiency_primary_5 MEDGEN:766288 COQ10D5 MONDO:0013840 Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound. coenzyme Q10 deficiency, primary, 5 OMIM:614654 UMLS:C3553374 coenzyme Q10 deficiency, primary, type 5 DOID:0070242 GARD:0017470 coenzyme Q10 deficiency