ORPHA:667
Autosomal recessive malignant osteopetrosis
Also called Infantile malignant osteopetrosis
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (Europe)
- Rarity class
- 1-9 / 1 000 000
ORPHA:667 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Hearing impairment
- Otitis media
- Visual impairment
- Nystagmus
- Abnormality of visual evoked potentials
- Delayed eruption of teeth