Mitochondrial Complex Iii Deficiency, Nuclear Type 4; Mc3dn4

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Complex Iii Deficiency, Nuclear Type 4; Mc3dn4

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hyperreflexia
  • Intellectual disability, severe
  • Dystonia
  • Absent speech
  • Dementia
  • Muscular hypotonia of the trunk
  • Severe global developmental delay

And another 5 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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Mitochondrial Complex Iii Deficiency, Nuclear Type 4; Mc3dn4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
UQCRQ Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

UQCRQ
Specificity
100 %
Genes
100 %
UQCRQ Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

UQCRQ
Specificity
100 %
Genes
100 %
UQCRQ Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

UQCRQ
Specificity
100 %
Genes
100 %
UQCRQ Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

UQCRQ
Specificity
100 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Comprehensive Mitochondrial Metabolic Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
1 %
Genes
100 %
Respiratory Chain Deficiency.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SURF1, UQCRB, LRPPRC, NDUFAF5, COX4I2, NDUFA13, ATPAF2, NDUFAF1, NUBPL, NDUFA11, NDUFAF4, PDHX, COX10 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %

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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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