Overview
Muscle eye brain disease 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 electromyography finding
Very frequent (80-99%)HP:0003457
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Cognitive deficits
Very frequent (80-99%)HP:0100543
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Elevated circulating creatine phosphokinase
Very frequent (80-99%)HP:0003236
Gait disturbance
Very frequent (80-99%)HP:0001288
Glaucoma
Very frequent (80-99%)HP:0000501
Impaired vision
Very frequent (80-99%)HP:0000505
Myopathy
Very frequent (80-99%)HP:0003198
Near sighted
Very frequent (80-99%)HP:0000545
Nonsyndromal hydrocephalus
Very frequent (80-99%)HP:0000238
Optic atrophy
Very frequent (80-99%)HP:0000648
Squint
Very frequent (80-99%)HP:0000486
Abnormality of movement
Frequent (30-79%)HP:0100022
Central hypotonia
Frequent (30-79%)HP:0001252
Hypertonia
Frequent (30-79%)HP:0001276
Lens opacities
Frequent (30-79%)HP:0000518
Seizures
Frequent (30-79%)HP:0001250
Voice abnormality
Frequent (30-79%)HP:0001608
Cerebellar hypoplasia/atrophy
Occasional (5-29%)HP:0007360
Meningocele
Occasional (5-29%)HP:0002435
Paralysis or weakness of one side of body
Occasional (5-29%)HP:0004374
Single brain ventricle
Occasional (5-29%)HP:0001360
Quick Facts
- SNOMED CT
- 277950001
- UMLS CUI
- C0457133
- Fully Specified Name
- Muscle eye brain disease (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 23
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.