Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
Comprehensive, easy-to-understand information about this condition
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Niemann-Pick disease, type C2
MONDO:0011873
Niemann-Pick disease type C, severe perinatal form
MONDO:0016306
Niemann-Pick disease type C, severe early infantile neurologic onset
MONDO:0016307
Niemann-Pick disease type C, late infantile neurologic onset
MONDO:0016308
Niemann-Pick disease type C, juvenile neurologic onset
MONDO:0016309
Niemann-Pick disease type C, adult neurologic onset
MONDO:0016310