Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 2; Cemcox2

Clinical Features

Top most frequent phenotypes and symptoms related to Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 2; Cemcox2

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Respiratory distress
  • Cardiomyopathy
  • Depressivity
  • Encephalopathy
  • Acidosis
  • Hypertrophic cardiomyopathy

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.

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 2; Cemcox2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®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 %
COX15 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

COX15
Specificity
100 %
Genes
100 %
COX15 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

COX15
Specificity
100 %
Genes
100 %
COX15 Sequencing Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

COX15
Specificity
100 %
Genes
100 %
COX15 Sequencing Analysis.

By Baylor Miraca Genetics Laboratories (United States).

COX15
Specificity
100 %
Genes
100 %
Cardiomyopathy Panel.

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

RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Hypertrophic Cardiomyopathy Panel.

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

SCO2, SURF1, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, JPH2, ACTC1, CAV3, LDB3, OBSCN, ANKRD1, MYLK2, ACTN2, COX15 , (...)

View the complete list with 16 more genes
Specificity
3 %
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 %

You can get up to 64 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 Search Engine

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