Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal finger-nose-finger test
Always present (100%)HP:0001310
Abnormality of the dentate nucleus
Always present (100%)HP:0100321
Extensor plantar responses
Always present (100%)HP:0003487
Lack of feeling, emotion, interest
Always present (100%)HP:0000741
Microcoria
Always present (100%)HP:0025492
Nystagmus, continuous pendular
Always present (100%)HP:0012043
Palatal tremor
Always present (100%)HP:0010530
Sleepy
Always present (100%)HP:0002329
Tiredness
Always present (100%)HP:0012378
Abnormal vocalization
Very frequent (80-99%)HP:0002167
Absence of corpus callosum
Very frequent (80-99%)HP:0001274
Clonus
Very frequent (80-99%)HP:0002169
Corticospinal signs
Very frequent (80-99%)HP:0007256
Dull intelligence
Very frequent (80-99%)HP:0001249
Electroencephalogram abnormal
Very frequent (80-99%)HP:0002353
Frontal protuberance
Very frequent (80-99%)HP:0002007
Increased reflexes
Very frequent (80-99%)HP:0001347
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Large facies
Very frequent (80-99%)HP:0100729
Large head
Very frequent (80-99%)HP:0000256
Macrencephaly
Very frequent (80-99%)HP:0001355
Nausea and vomiting
Very frequent (80-99%)HP:0002017
Poor weight gain
Very frequent (80-99%)HP:0001508
Scoliosis
Very frequent (80-99%)HP:0002650
Seizures
Very frequent (80-99%)HP:0001250
Trouble sleeping
Very frequent (80-99%)HP:0002360
Abnormal deposits of calcium in the brain
Frequent (30-79%)HP:0002514
Ataxia
Frequent (30-79%)HP:0001251
Constipation
Frequent (30-79%)HP:0002019
Deglutition disorder
Frequent (30-79%)HP:0002015
Quick Facts
- SNOMED CT
- 81854007
- UMLS CUI
- C0270726
- Fully Specified Name
- Alexander disease (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.