Fatal Infantile Hypertrophic Cardiomyopathy Due To Mitochondrial Complex I Deficiency

Clinical Features

Top most frequent phenotypes and symptoms related to Fatal Infantile Hypertrophic Cardiomyopathy Due To Mitochondrial Complex I Deficiency

  • Hepatomegaly
  • Hyperhidrosis
  • Weight loss
  • Hypertrophic cardiomyopathy
  • Feeding difficulties in infancy
  • Pallor
  • Lactic acidosis
  • Metabolic acidosis
  • Increased serum lactate
  • Cardiomegaly

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Fatal Infantile Hypertrophic Cardiomyopathy Due To Mitochondrial Complex I Deficiency Is also known as fatal infantile hcm due to mitochondrial complex i deficiency, fatal infantile hypertrophic cardiomyopathy due to nadh-coq reductase deficiency, fatal infantile hypertrophic cardiomyopathy due to nadh-coenzyme q reductase deficiency.

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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Fatal Infantile Hypertrophic Cardiomyopathy Due To Mitochondrial Complex I Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
NDUFAF1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

NDUFAF1
Specificity
100 %
Genes
100 %
NDUFAF1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

NDUFAF1
Specificity
100 %
Genes
100 %
NDUFAF1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

NDUFAF1
Specificity
100 %
Genes
100 %
NDUFAF1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

NDUFAF1
Specificity
100 %
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 %
Ataxia Exome Panel.

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

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

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Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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