late-infantile/juvenile Krabbe disease
MONDO:0016090Mondo
Findings
No curated finding names late-infantile/juvenile Krabbe disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
46 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Increased CSF protein concentrationHPOHP:0002922
- Very frequent (80% to 99% of cases)
- Reduced tissue galactocerebrosidase activityHPOHP:0034322
- Very frequent (80% to 99% of cases)
- Abnormal CNS myelinationHPOHP:0011400
- Frequent (30% to 79% of cases)
- Abnormality of visual evoked potentialsHPOHP:0000649
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- Frequent (30% to 79% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Frequent (30% to 79% of cases)
- Delayed brainstem auditory evoked response conduction timeHPOHP:0004466
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- EEG with persistent abnormal rhythmic activityHPOHP:0010846
- Frequent (30% to 79% of cases)
- EsotropiaHPOHP:0000565
- Frequent (30% to 79% of cases)
- Frequent fallsHPOHP:0002359
- Frequent (30% to 79% of cases)
Show the remaining 34
- Functional motor deficitHPOHP:0004302
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- Loss of ambulationHPOHP:0002505
- Frequent (30% to 79% of cases)
- Loss of speechHPOHP:0002371
- Frequent (30% to 79% of cases)
- Lower limb spasticityHPOHP:0002061
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: late-infantile/juvenile Krabbe disease
- Also called
- Krabbe disease, late-onset