Overview
Recessive mitochondrial ataxia 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.
Abnormal finger chase test
Frequent (30-79%)HP:0001310
Abnormality of central motor conduction
Frequent (30-79%)HP:0012079
Abnormality of movement
Frequent (30-79%)HP:0100022
Absent tendon reflexes
Frequent (30-79%)HP:0001284
Ataxia
Frequent (30-79%)HP:0001251
Behavioral symptoms
Frequent (30-79%)HP:0000708
Cognitive deficits
Frequent (30-79%)HP:0100543
Deglutition disorder
Frequent (30-79%)HP:0002015
Epilepsy
Frequent (30-79%)HP:0001250
Eye muscle paralysis
Frequent (30-79%)HP:0000602
Gait disturbance
Frequent (30-79%)HP:0001288
Generalised decreased muscle tone
Frequent (30-79%)HP:0001290
Hashimoto's thyroiditis
Frequent (30-79%)HP:0000872
Headache
Frequent (30-79%)HP:0002315
Impaired vibratory sensation
Frequent (30-79%)HP:0002495
Increased serum pyruvate
Frequent (30-79%)HP:0003542
Neuropathy
Frequent (30-79%)HP:0009830
Positive Romberg sign
Frequent (30-79%)HP:0002403
Sensory axonal neuropathy
Frequent (30-79%)HP:0003390
ST segment elevation
Frequent (30-79%)HP:0012251
Uncoordinated limb movement
Frequent (30-79%)HP:0002406
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Quick Facts
- SNOMED CT
- 782696001
- UMLS CUI
- C4760799
- Fully Specified Name
- Recessive mitochondrial ataxia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
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.