neuronal ceroid lipofuscinosis 8 northern epilepsy variant
Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.
MONDO:0010830
neuronal ceroid lipofuscinosis 8
is_a
MONDO:0015653
monogenic epilepsy
is_a
MONDO:0015905
syndromic dyslipidemia
is_a
MONDO:0020074
progressive myoclonus epilepsy
is_a
CLN8
related
CLN8 disease, EPMR (subtype)
related
CLN8 disease, Northern epilepsy variant
exact
CLN8 disease, late infantile (subtype)
related
EPMR
exact
NCL, Northern epilepsy variant
exact
Northern epilepsy
exact
ceroid lipofuscinosis neuronal 8
related
early onset familial encephalopathy with neuroserpin inclusion bodies
exact
epilepsy mental deterioration Finnish type
related
epilepsy, progressive, with mental retardation
related
neuronal ceroid lipofuscinosis 8
related
neuronal ceroid lipofuscinosis, Northern epilepsy variant
exact
progressive epilepsy - intellectual disability, Finnish type
related
progressive epilepsy with intellectual disability, northern epilepsy
exact
progressive epilepsy-intellectual disability syndrome, Finnish type
exact
progressive myoclonic epilepsy with neuroserpin inclusion bodies
exact