has characteristic has characteristic mitochondrial oxidative phosphorylation disorder hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation https://www.malacards.org/card/hypertrophic_cardiomyopathy_with_kidney_anomalies_due_to_mitochondrial_dna_mutation hypertrophic cardiomyopathy and renal tubular disease due to mtDNA mutation GARD:0021442 Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is 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. Orphanet:324525 MEDGEN:1650300 UMLS:C4749942 MONDO:0017933 point_mutation