Overview
Progressive myoclonic epilepsy type 9 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.
Cobb angle greater than ten degrees
Always present (100%)HP:0002650
Inability to coordinate movements when walking
Always present (100%)HP:0002066
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Action myoclonus
Frequent (30-79%)HP:0034360
Cortical gyral simplification
Frequent (30-79%)HP:0009879
Decreased size of tongue
Frequent (30-79%)HP:0000171
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Frequent falls
Frequent (30-79%)HP:0002359
Generalized tonic-clonic seizure (without specification of onset)
Frequent (30-79%)HP:0002069
Interhemispheric cyst
Frequent (30-79%)HP:0032327
Involuntary jerking movements
Frequent (30-79%)HP:0001336
Muscle atrophy, generalised
Frequent (30-79%)HP:0003700
Myoclonic epilepsy, progressive
Frequent (30-79%)HP:0002123
Prolonged seizure
Frequent (30-79%)HP:0002133
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Thumb hypoplasia
Frequent (30-79%)HP:0009778
Quick Facts
- SNOMED CT
- 1228857005
- UMLS CUI
- C4225289
- Fully Specified Name
- Progressive myoclonic epilepsy type 9 (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 16
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.