Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Spasticity, progressive
Always present (100%)HP:0002191
Abnormal circulating enzyme concentration or activity
Very frequent (80-99%)HP:0012379
Abnormal electromyography finding
Very frequent (80-99%)HP:0003457
Abnormal visual evoked responses
Very frequent (80-99%)HP:0000649
Abnormality of the thumbs
Very frequent (80-99%)HP:0001172
Absent/small abdominal wall muscles
Very frequent (80-99%)HP:0010318
Ataxia
Very frequent (80-99%)HP:0001251
Behavioural disorders
Very frequent (80-99%)HP:0000708
Cloverleaf skull shape
Very frequent (80-99%)HP:0002676
Deafness
Very frequent (80-99%)HP:0000365
Frequently cries for no reason
Very frequent (80-99%)HP:0030215
Functional motor deficit
Very frequent (80-99%)HP:0004302
Hyperpyrexia
Very frequent (80-99%)HP:0033031
Impaired vision
Very frequent (80-99%)HP:0000505
Intellectual deterioration
Very frequent (80-99%)HP:0001268
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Laboratory abnormality
Very frequent (80-99%)HP:0001939
Nerve damage causing decreased feeling and movement
Very frequent (80-99%)HP:0007141
Peripheral neuropathy
Very frequent (80-99%)HP:0009830
Reduced tissue galactocerebrosidase activity
Very frequent (80-99%)HP:0034322
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Sensory neuropathy
Very frequent (80-99%)HP:0000763
Unexplained fevers
Very frequent (80-99%)HP:0001955
Worsening neurological symptoms
Very frequent (80-99%)HP:0002344
Abnormal peripheral nerve transmission
Frequent (30-79%)HP:0003134
Abnormality of the periventricular white matter
Frequent (30-79%)HP:0002518
Decreased nerve conduction velocity
Frequent (30-79%)HP:0000762
Delayed brainstem auditory evoked response conduction time
Frequent (30-79%)HP:0004466
Elevated brain choline level by MRS
Frequent (30-79%)HP:0012706
Feeding difficulties
Frequent (30-79%)HP:0011968
Related Conditions
Quick Facts
- SNOMED CT
- 189979005
- UMLS CUI
- C0751273
- Fully Specified Name
- Globoid cell leukodystrophy, early 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.