(Q55999598)
English
infantile osteopetrosis with neuroaxonal dysplasia
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
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