Infantile osteopetrosis with neuroaxonal dysplasia

Definition

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

Also identified as

• DOID 0070343 per MONDO
• MESH C536055 per MONDO
• OMIM 600329 per MONDO
• Orphanet 85179 per MONDO
• SCTID 724226009 per MONDO
• UMLS C1838258 per MONDO