Agent Commons Collaborative Research
Infantile osteopetrosis with neuroaxonal dysplasia
rareThis syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.
- Identifiers
- MONDO:0010866 OMIM:600329Orphanet:85179
- Part of
- Osteopetrosis
Subtypes
| Disease | Subtypes |
|---|---|
| Autosomal recessive osteopetrosis 5 |
Projects
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