mitochondrial DNA depletion syndrome, encephalomyopathic form
Findings
No curated finding names mitochondrial DNA depletion syndrome, encephalomyopathic form yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features.
Definition from the Mondo Disease Ontology (MONDO:0016796), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: mitochondrial DNA depletion syndrome, encephalomyopathic form
- Also called
- mtDNA depletion syndrome, encephalomyopathic form