infantile osteopetrosis with neuroaxonal dysplasia (Q55999598)
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This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus
- OSTEOPETROSIS AND INFANTILE NEUROAXONAL DYSTROPHY
- CSF1R-related brain malformation and osteopetrosis
- osteoporosis and infantile neuroaxonal dystrophy
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | infantile osteopetrosis with neuroaxonal dysplasia |
This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus |
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