LDL receptor deficiency

Synonym(s)
- Familial hypercholesterolemia type 1,
- LDLR-related familial hypercholesterolemia
Type

Disease
External link(s)
- IEMbase
Gene
- LDLR / Low Density Lipoprotein Receptor
  19p13.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Low-density lipoprotein receptor
Disease group(s)
- 15.1 Disorders of low-density lipoprotein (LDL) metabolism
Child entries
- Homozygous LDL receptor deficiency