PDGFB

platelet derived growth factor subunit B
OMIM: 190040
PanelMode of inheritanceDetails
4 panels
R-numbers: R56
Signed-off version 3.12
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification, idiopathic, 5, OMIM:615483
R-numbers: R58
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Basal ganglia calcification, idiopathic, 5, OMIM:615483
R-numbers: R57
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Basal ganglia calcification, idiopathic, 5, OMIM:615483, basal ganglia calcification, idiopathic, 5, MONDO:0014204
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Fahr syndrome, Basal ganglia calcification, idiopathic, 5, 615483