Mitochondrial Complex Iii Deficiency, Nuclear Type 7; Mc3dn7

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Complex Iii Deficiency, Nuclear Type 7; Mc3dn7

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Depressed nasal bridge
  • Epicanthus
  • Intrauterine growth retardation
  • Upslanted palpebral fissure

And another 11 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.

Mitochondrial Complex Iii Deficiency, Nuclear Type 7; Mc3dn7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Complex III Deficiency via UQCC2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

UQCC2
Specificity
100 %
Genes
100 %
Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes).

By PreventionGenetics PreventionGenetics (United States).

BCS1L, UQCRB, UQCRC2, UQCC2, CYC1, TTC19, LYRM7, UQCRQ, UQCC3
Specificity
12 %
Genes
100 %
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 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
New Born testing (CentoICU).

By Centogene AG - the Rare Disease Company (Germany).

RMRP, BCS1L, BDNF, RPS19, RPS6KA3, SALL1, SCN1A, SCN2A, SFTPB, SFTPC, SFTPD, ST3GAL5, STIL, SIX1, SIX5, SLC16A1, SLCO1B1, SLCO1B3, SLC22A5, BRAF , (...)

View the complete list with 487 more genes
Specificity
1 %
Genes
100 %
Mitochondrial complex III deficiency, nuclear type 7.

By Centogene AG - the Rare Disease Company (Germany).

UQCC2
Specificity
100 %
Genes
100 %
Mitochondrial complex III deficiency, nuclear type 7.

By Centogene AG - the Rare Disease Company (Germany).

UQCC2
Specificity
100 %
Genes
100 %

You can get up to -1 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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