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Niemann-Pick Disease Type C
Niemann-Pick Disease Type C
Prevalence:
1/150000
lysosomal
Official
·
OMIM:257220
Official
·
ORPHA646
Cholesterol trafficking disorder due to NPC1/NPC2 gene mutations.
Associated Genes
NPC1
NPC Intracellular Cholesterol Transporter 1
Chromosome 18
Autosomal Recessive