Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
ORPHA:324525· ICD-10 E88.8
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- No data available
- Age of onset
- Infancy, Neonatal