maternally-inherited Leigh syndrome
Findings
No curated finding names maternally-inherited Leigh syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental delay, with onset in infancy or early childhood, and resulting from maternally-inherited mutations in mitochondrial DNA.
Definition from the Mondo Disease Ontology (MONDO:0016814), read 2026-09-29. CC BY 4.0.
Features
53 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.
- Abnormality of Krebs cycle metabolismHPOHP:0000816
- Very frequent (80% to 99% of cases)
- Increased CSF lactateHPOHP:0002490
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Bilateral tonic-clonic seizureHPOHP:0002069
- Frequent (30% to 79% of cases)
- ChoreaHPOHP:0002072
- Frequent (30% to 79% of cases)
- DyskinesiaHPOHP:0100660
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- Episodic vomitingHPOHP:0002572
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
- Frequent (30% to 79% of cases)
- Focal T2 hyperintense basal ganglia lesionHPOHP:0007183
- Frequent (30% to 79% of cases)
- Gait ataxiaHPOHP:0002066
- Frequent (30% to 79% of cases)
Show the remaining 41
- Generalized myoclonic seizureHPOHP:0002123
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Frequent (30% to 79% of cases)
- LacticaciduriaHPOHP:0003648
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
- OphthalmoparesisHPOHP:0000597
- Frequent (30% to 79% of cases)
Genes
7 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:7459HGNC:7459
- Supportive · Orphanet · Mitochondrial · 2021
- MT-ATP6HGNC:7414
- Supportive · Orphanet · Mitochondrial · 2021
- MT-ND1HGNC:7455
- Supportive · Orphanet · Mitochondrial · 2021
- MT-ND2HGNC:7456
- Supportive · Orphanet · Mitochondrial · 2021
- MT-ND3HGNC:7458
- Supportive · Orphanet · Mitochondrial · 2021
- MT-ND5HGNC:7461
Where it sits
- A kind of
Other names
3 names
Resolves to: maternally-inherited Leigh syndrome
- Also called
- maternally-inherited infantile subacute necrotizing encephalopathymaternally-inherited Leigh diseaseMILS