Overview
Alexander disease infantile form 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.
Cortical white matter abnormalities seen on MRI
Very frequent (80-99%)HP:0002500
Hyperintense lesions in the basal ganglia on MRI
Very frequent (80-99%)HP:0007183
Abnormal thalamic MRI signal intensity
Frequent (30-79%)HP:0012696
Atrophic cerebellum
Frequent (30-79%)HP:0001272
Corticospinal signs
Frequent (30-79%)HP:0007256
Epilepsy
Frequent (30-79%)HP:0001250
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Progressive macrocephaly
Frequent (30-79%)HP:0004481
Rosenthal fibres
Frequent (30-79%)HP:0100320
Scoliosis
Frequent (30-79%)HP:0002650
Ataxia
Occasional (5-29%)HP:0001251
Cachexia
Occasional (5-29%)HP:0004326
Deglutition disorder
Occasional (5-29%)HP:0002015
Difficulty articulating speech
Occasional (5-29%)HP:0001260
Increased reflexes
Occasional (5-29%)HP:0001347
Involuntary muscle stiffness, contraction, or spasm
Occasional (5-29%)HP:0001257
Mental and motor retardation
Occasional (5-29%)HP:0001263
Nonsyndromal hydrocephalus
Occasional (5-29%)HP:0000238
Generalised decreased muscle tone
Very rare (1-4%)HP:0001290
Palatal tremor
Very rare (1-4%)HP:0010530
Peripheral hypotonia
Very rare (1-4%)HP:0001252
Vomiting
Very rare (1-4%)HP:0002013
Related Conditions
Quick Facts
- SNOMED CT
- 1259106002
- UMLS CUI
- C5769581
- Fully Specified Name
- Alexander disease type I (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.