Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Difficulty articulating speech
Very frequent (80-99%)HP:0001260
Dystonic movements
Very frequent (80-99%)HP:0001332
Striatal T2 hyperintensity
Very frequent (80-99%)HP:0031206
Decreased visual acuity
Frequent (30-79%)HP:0007663
Dyskinesia
Frequent (30-79%)HP:0100660
Facial Dystonia
Frequent (30-79%)HP:0012179
Gait disturbance
Frequent (30-79%)HP:0001288
Impaired vision
Frequent (30-79%)HP:0000505
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Limb dystonia
Frequent (30-79%)HP:0002451
No development of motor milestones
Frequent (30-79%)HP:0001270
Optic atrophy
Frequent (30-79%)HP:0000648
Abnormal visual evoked responses
Occasional (5-29%)HP:0000649
Ataxia
Occasional (5-29%)HP:0001251
Athetoid movements
Occasional (5-29%)HP:0002305
Axial dystonia
Occasional (5-29%)HP:0002530
Central hypotonia
Occasional (5-29%)HP:0001252
Cerebral atrophy
Occasional (5-29%)HP:0002059
Choreiform movements
Occasional (5-29%)HP:0002072
Clumsiness
Occasional (5-29%)HP:0002312
Decreased activity of mitochondrial complex II
Occasional (5-29%)HP:0008314
Decreased activity of mitochondrial complex IV
Occasional (5-29%)HP:0008347
Degeneration of cerebellum
Occasional (5-29%)HP:0001272
Deglutition disorder
Occasional (5-29%)HP:0002015
Delayed gross motor development
Occasional (5-29%)HP:0002194
Elevated brain lactate level by MRS
Occasional (5-29%)HP:0012707
Esophoria
Occasional (5-29%)HP:0025312
Extensor plantar responses
Occasional (5-29%)HP:0003487
Feeding difficulties
Occasional (5-29%)HP:0011968
Headache
Occasional (5-29%)HP:0002315
Related Conditions
Quick Facts
- SNOMED CT
- 1236805005
- UMLS CUI
- C4310634
- Fully Specified Name
- Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration 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.