ORPHA:487
Krabbe disease
Also called GALC deficiency, Galactocerebrosidase deficiency, Galactosylceramidase deficiency, Globoid cell leukodystrophy
- Body system
- Neurological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (United States)
- Rarity class
- 1-9 / 1 000 000
ORPHA:487 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Hearing impairment
- Sensorineural hearing impairment
- Visual impairment
- Atypical behavior
- Sensory neuropathy
- Abnormal thumb morphology