Overview
By MedlinePlus, National Library of Medicine
NIH: National Institute of Neurological Disorders and Stroke Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Elevated csf protein
Very frequent (80-99%)HP:0002922
Reduced galactocerebrosidase activity in cultured fibroblasts
Very frequent (80-99%)HP:0034322
Abnormal CNS myelination
Frequent (30-79%)HP:0011400
Abnormal visual evoked responses
Frequent (30-79%)HP:0000649
Behavioral changes
Frequent (30-79%)HP:0000708
Clumsiness
Frequent (30-79%)HP:0002312
Decreased nerve conduction velocity
Frequent (30-79%)HP:0000762
Delayed brainstem auditory evoked response conduction time
Frequent (30-79%)HP:0004466
EEG with persistent abnormal rhythmic activity
Frequent (30-79%)HP:0010846
Esotropia
Frequent (30-79%)HP:0000565
Frequent falls
Frequent (30-79%)HP:0002359
Functional motor deficit
Frequent (30-79%)HP:0004302
Gait disturbance
Frequent (30-79%)HP:0001288
Hearing impairment
Frequent (30-79%)HP:0000365
Intellectual deterioration
Frequent (30-79%)HP:0001268
Loss of acquired milestones
Frequent (30-79%)HP:0002376
Loss of ambulation
Frequent (30-79%)HP:0002505
Loss of speech
Frequent (30-79%)HP:0002371
Nerve damage causing decreased feeling and movement
Frequent (30-79%)HP:0007141
No development of motor milestones
Frequent (30-79%)HP:0001270
Peripheral neuropathy
Frequent (30-79%)HP:0009830
Spastic diparesis
Frequent (30-79%)HP:0001264
Spastic paraparesis
Frequent (30-79%)HP:0002313
Spasticity of lower limb
Frequent (30-79%)HP:0002061
Upper motor neuron dysfunction
Frequent (30-79%)HP:0002493
Visual loss
Frequent (30-79%)HP:0000572
Acroparesthesia
Occasional (5-29%)HP:0031006
Ataxia
Occasional (5-29%)HP:0001251
Cavus foot
Occasional (5-29%)HP:0001761
Childhood attention deficit/hyperactivity disorder
Occasional (5-29%)HP:0007018
Related Conditions
Quick Facts
- SNOMED CT
- 41142009
- UMLS CUI
- C0268252
- Fully Specified Name
- Globoid cell leukodystrophy, late-onset (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.