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infantile osteopetrosis with neuroaxonal dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus.
Mondo Term and Equivalent IDs
MONDO:0010866:  infantile osteopetrosis with neuroaxonal dysplasia
GARD:0010082: 
MESH:C536055: 
Orphanet:85179: 
SCTID:724226009: 
UMLS:C1838258: