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GTR Home > Conditions/Phenotypes > Coenzyme Q10 deficiency, primary, 3

Coenzyme Q10 deficiency, primary, 3

Synonyms
PDSS2-Related Coenzyme Q10 Deficiency

Summary

Primary 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. [from GeneReviews]

Available tests

66 tests are in the database for this condition.

Clinical tests (66 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C6orf210, COQ10D3, COQ1B, DLP1, bA59I9.3, hDLP1, PDSS2
    Summary: decaprenyl diphosphate synthase subunit 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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