Overview
Maternally inherited Leigh syndrome is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of Krebs cycle metabolism
Very frequent (80-99%)HP:0000816
Increased CSF lactic acid
Very frequent (80-99%)HP:0002490
Ataxia
Frequent (30-79%)HP:0001251
Choreiform movements
Frequent (30-79%)HP:0002072
Dyskinesia
Frequent (30-79%)HP:0100660
Dystonic disease
Frequent (30-79%)HP:0001332
Epilepsy
Frequent (30-79%)HP:0001250
Extraocular muscle palsy
Frequent (30-79%)HP:0000597
Frequent vomiting
Frequent (30-79%)HP:0002572
Generalized myoclonic seizure
Frequent (30-79%)HP:0002123
Generalized tonic-clonic seizure (without specification of onset)
Frequent (30-79%)HP:0002069
Hyperintense lesions in the basal ganglia on MRI
Frequent (30-79%)HP:0007183
Hypertonia
Frequent (30-79%)HP:0001276
Hypotonia, early
Frequent (30-79%)HP:0008947
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Increased blood lactate
Frequent (30-79%)HP:0002151
Increased urine lactate
Frequent (30-79%)HP:0003648
Involuntary muscle stiffness, contraction, or spasm
Frequent (30-79%)HP:0001257
Muscle weakness
Frequent (30-79%)HP:0001324
Nerve damage causing decreased feeling and movement
Frequent (30-79%)HP:0007141
Pigmentary retinal deposits
Frequent (30-79%)HP:0000580
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Severe psychomotor retardation
Frequent (30-79%)HP:0011344
Abnormal prosody
Occasional (5-29%)HP:0031434
Abnormality of cardiac conduction system
Occasional (5-29%)HP:0031546
Apnea
Occasional (5-29%)HP:0002104
Bulbar signs
Occasional (5-29%)HP:0002483
Cardiomyopathy, hypertrophic
Occasional (5-29%)HP:0001639
Deglutition disorder
Occasional (5-29%)HP:0002015
Demyelinating peripheral neuropathy
Occasional (5-29%)HP:0007108
Quick Facts
- SNOMED CT
- 717052002
- UMLS CUI
- C2931092
- Fully Specified Name
- Maternally inherited Leigh syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.