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Infantile osteopetrosis with neuroaxonal dysplasia

What is Infantile osteopetrosis with neuroaxonal dysplasia?

This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.

Inheritance type

Autosomal recessive

Age of Onset

  • Infancy
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.