UBQLN2

PanelMode of inheritanceDetails
1 panel
R-numbers: R58
Signed-off version 2.178
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, OMIM:300857