Infantile osteopetrosis with neuroaxonal dysplasia
ORPHA:85179· ICD-10 Q78.2
Definition
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal