FGF13

fibroblast growth factor 13
OMIM: 300070
PanelMode of inheritanceDetails
1 panel
R-numbers: R59
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Developmental and epileptic encephalopathy, Intellectual disability, Infantile-onset seizures