Coenzyme Q10 Deficiency, Primary, 8; Coq10d8

Clinical Features

Top most frequent phenotypes and symptoms related to Coenzyme Q10 Deficiency, Primary, 8; Coq10d8

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Flexion contracture
  • Feeding difficulties
  • Visual impairment

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Coenzyme Q10 Deficiency, Primary, 8; Coq10d8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BCS1L, MRPL12, MRPL3, SCO1, SCO2, SDHB, SDHD, SLC25A1, SLC25A3, SLC25A4, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TK2, TSFM, TUFM, UQCRB , (...)

View the complete list with 154 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
COQ7.

By Fulgent Genetics Fulgent Genetics (United States).

COQ7
Specificity
100 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics (Finland).

BCS1L, CNNM2, RYR1, CNNM4, SCN4A, SEC23B, SGSH, SI, SLC40A1, SLC12A3, SLC16A1, SLC17A5, SLC22A5, SLC25A1, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC2A1, SLC2A2 , (...)

View the complete list with 411 more genes
Specificity
1 %
Genes
100 %
Coenzyme q10 Deficiency Panel.

By Blueprint Genetics (Finland).

APTX, COQ8A, PDSS1, COQ4, COQ6, SLC25A26, COQ7, PDSS2, COQ2, COQ9, ANO10, COQ5, ETFA, ETFB, ETFDH
Specificity
7 %
Genes
100 %
Primary Coenzyme Q10 Deficiency: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

COQ8A, PDSS1, COQ4, COQ6, COQ7, PDSS2, COQ2, COQ9
Specificity
13 %
Genes
100 %

We have -2 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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