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disease: Coenzyme Q10 deficiency, primary 1

id979
nameCoenzyme Q10 deficiency, primary 1
descriptionPrimary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen.
variant-disease NM_015697.8(COQ2):c.437G>A (p.Ser146Asn) AND Coenzyme Q10 deficiency, primary 1
NM_015697.8(COQ2):c.1217_1219AGA[1] (p.Lys407del) AND Coenzyme Q10 deficiency, primary 1
NM_015697.8(COQ2):c.1197del (p.Asn401fs) AND Coenzyme Q10 deficiency, primary 1
NM_015697.8(COQ2):c.16C>A (p.Gln6Lys) AND Coenzyme Q10 deficiency, primary 1
NM_015697.8(COQ2):c.890A>G (p.Tyr297Cys) AND Coenzyme Q10 deficiency, primary 1
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