lethal infantile mitochondrial myopathy
Findings
No curated finding names lethal infantile mitochondrial myopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lethal infantile mitochondrial myopathy is a rare mitochondrial oxidative phosphorylation disorder characterized by progressive generalized hypotonia, progressive external ophthalmoplegia and severe lactic acidosis, which results in early fatality (days to months after birth). Patients may present with lethargy and areflexia and may associate additional features, such as cardiomyopathy, renal dysfunction, liver involvement and seizures.
Definition from the Mondo Disease Ontology (MONDO:0010792), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- CardiomyopathyHPOHP:0001638
- Frequent (30% to 79% of cases)
- Progressive external ophthalmoplegiaHPOHP:0000590
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- Severe global developmental delayHPOHP:0011344
- Frequent (30% to 79% of cases)
- Severe lactic acidosisHPOHP:0004900
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Occasional (5% to 29% of cases)
- Fatal liver failure in infancy
Where it sits
- A kind of
Other names
3 names
Resolves to: lethal infantile mitochondrial myopathy
- Also called
- lethal infantile mitochondrial diseaseLIMDLIMM