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GENATLAS PHENOTYPE

last update : 07-06-2016

Symbol	FHBL2
Location	1p31.3
Name	familial hypobetalipoproteinemia type 2
Corresponding gene	ANGPTL3
Main clinical features	fat malabsortion and low plasma cholesterol level, neurological abnormalities, acanthocytosis (spiculated red cells in blood) extremely low plasma levels of LDL cholesterol, HDL cholesterol, and triglycerides
Genetic determination	autosomal dominant
Function/system disorder	metabolism/lipoprotein-lipid
	neurology
	hematology
Type	disease

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