Panel | Mode of inheritance | Details |
---|---|---|
4 panels | ||
R-numbers: R56 Signed-off version 3.19 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Basal ganglia calcification, idiopathic, 1, OMIM:213600 |
R-numbers: R58 Signed-off version 5.4 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Dystonia, Basal ganglia calcification, idiopathic, 1, OMIM:158378 |
R-numbers: R57 Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | Phenotypes Basal ganglia calcification, idiopathic, 1 213600, Dystonia |
Component of the following Super Panels:
Signed-off version 4.3 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Fahr syndrome, Basal ganglia calcification, idiopathic, 1, 213600, Familial Idiopathic Basal Ganglia Calcification |