This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.
Comprehensive, easy-to-understand information about this condition
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melorheostosis
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osteomesopyknosis
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dysosteosclerosis
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autosomal recessive osteopetrosis 5
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pycnodysostosis
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anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
MONDO:0010295