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Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation

Disease definition

A mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.

ORPHA:324525

Classification level: Disorder
  • Synonym(s):
    • Hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation
  • Prevalence: <1 / 1 000 000
  • Inheritance: No data available 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E88.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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