infantile Krabbe disease
MONDO:0016089Mondo
Findings
No curated finding names infantile Krabbe disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
70 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.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abnormality of visual evoked potentialsHPOHP:0000649
- Very frequent (80% to 99% of cases)
- Functional motor deficitHPOHP:0004302
- Very frequent (80% to 99% of cases)
- HyperpyrexiaHPOHP:0033031
- Very frequent (80% to 99% of cases)
- Inappropriate cryingHPOHP:0030215
- Very frequent (80% to 99% of cases)
- Increased CSF protein concentrationHPOHP:0002922
- Very frequent (80% to 99% of cases)
- IrritabilityHPOHP:0000737
- Very frequent (80% to 99% of cases)
- Mental deteriorationHPOHP:0001268
- Very frequent (80% to 99% of cases)
- Progressive neurologic deteriorationHPOHP:0002344
- Very frequent (80% to 99% of cases)
- Reduced tissue galactocerebrosidase activityHPOHP:0034322
- Very frequent (80% to 99% of cases)
- Sensorimotor neuropathyHPOHP:0007141
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- Very frequent (80% to 99% of cases)
Show the remaining 58
- Unexplained feversHPOHP:0001955
- Very frequent (80% to 99% of cases)
- Abnormal periventricular white matter morphologyHPOHP:0002518
- Frequent (30% to 79% of cases)
- Axial hypotoniaHPOHP:0008936
- 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)
- Elevated brain choline level by MRSHPOHP:0012706
Where it sits
- A kind of
Other names
7 names
Resolves to: infantile Krabbe disease
- Also called
- early onset Krabbe diseaseearly symptomatic Krabbe diseaseearly-onset Krabbe diseaseinfantile onset Krabbe diseaseinfantile-onset Krabbe diseaseKrabbe disease, classic formKrabbe disease, early-onset