ORPHA:354
GM1 gangliosidosis
Also called Beta-galactosidase-1 deficiency, GLB1 deficiency, Landing disease
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- 1-9 / 1 000 000 (Europe)
- Rarity class
- 1-9 / 1 000 000
ORPHA:354 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Coarse facial features
- Depressed nasal ridge
- Nystagmus
- Abnormal diaphysis morphology
- Abnormal metaphysis morphology
- Hyperreflexia