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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 7/11/2005 |
Symbol | NPD |
Location | 18q11.2 |
Name | Niemann-Pick disease type D |
Corresponding gene | NPC1 |
Main clinical features |
|
Genetic determination | autosomal recessive |
Function/system disorder | metabolism/lysosomal |
neurology | |
Type | disease |
Gene product |
Name | regulator of cholesterol trafficking (NPC1) |
Remark(s) |