Leigh syndrome
Findings
No curated finding names Leigh syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions.
Definition from the Mondo Disease Ontology (MONDO:0009723), read 2026-09-29. CC BY 4.0.
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
100 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.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Very frequent (80% to 99% of cases)
- Increased CSF lactateHPOHP:0002490
- Very frequent (80% to 99% of cases)
- Lactic acidosisHPOHP:0003128
- Very frequent (80% to 99% of cases)
Show the remaining 88
- Brain imaging abnormalityHPOHP:0410263
- Frequent (30% to 79% of cases)
- Complex organic aciduriaHPOHP:0008336
- Frequent (30% to 79% of cases)
- Decreased activity of mitochondrial complex IHPOHP:0011923
- Frequent (30% to 79% of cases)
- Decreased activity of mitochondrial respiratory chainHPOHP:0008972
- Frequent (30% to 79% of cases)
- Decreased activity of the pyruvate dehydrogenase complexHPOHP:0002928
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
Genes
116 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.
- DLDHGNC:2898
- Definitive · ClinGen · Autosomal recessive · 2021
- EARS2HGNC:29419
- Definitive · ClinGen · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- ECHS1HGNC:3151
- Definitive · ClinGen · Autosomal recessive · 2021
- ETHE1HGNC:23287
- Definitive · ClinGen · Autosomal recessive · 2019
- FBXL4HGNC:13601
- Definitive · ClinGen · Autosomal recessive · 2020
Where it sits
Other names
6 names
Resolves to: Leigh syndrome
- Also called
- infantile subacute necrotizing encephalopathyLeigh diseaseLeigh syndrome spectrumLeigh's diseaseLSLSS