ORPHA:85179
Infantile osteopetrosis with neuroaxonal dysplasia
- Body system
- Immunological diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Europe)
- Rarity class
- <1 / 1 000 000
ORPHA:85179 is classified under "Immunological diseases" in the Orphanet nomenclature.
Common signs
- Cerebral atrophy
- Ventriculomegaly
- Increased skull ossification
- Cranial nerve paralysis
- Peripheral neuropathy
- Brain atrophy