PSEN1

PanelMode of inheritanceDetails
2 panels
R-numbers: R60
Signed-off version 1.27
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques, Alzheimer disease, type 3, with spastic paraparesis and apraxia, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques
R-numbers: R58
Signed-off version 2.178
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, OMIM:607822, Alzheimer disease, type 3, with spastic paraparesis and apraxia, OMIM:607822, Dystonia, Dementia, frontotemporal, OMIM:600274, Pick disease, OMIM:172700, Alzheimer disease, type 3, OMIM:607822