developmental and epileptic encephalopathy, 9
Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.
MONDO:0016160
X-linked intellectual disability-epilepsy syndrome
is_a
MONDO:0100062
genetic developmental and epileptic encephalopathy
is_a
MONDO:0100148
X-linked complex neurodevelopmental disorder
is_a
DEE9
exact
EFMR
exact
EIEE9
exact
Juberg-Hellman syndrome
exact
PCDH19 early infantile epileptic encephalopathy
exact
PCDH19-related FLE
related
PCDH19-related female-limited epilepsy
related
PCDH19-related infantile epileptic encephalopathy
related
developmental and epileptic encephalopathy 9
exact
developmental and epileptic encephalopathy, 9
exact
early infantile epileptic encephalopathy caused by mutation in PCDH19
exact
early infantile epileptic encephalopathy type 9
exact
epilepsy and intellectual disability limited to females
related
epilepsy and mental retardation limited to females
related
epilepsy, female restricted, with intellectual disability
related
epilepsy, female restricted, with mental retardation
related
epilepsy, female-restricted, with mental retardation
related
epileptic encephalopathy, early infantile, 9
exact
epileptic encephalopathy, early infantile, type 9
exact
familial epilepsy and intellectual disability limited to females
exact
familial epilepsy and mental retardation limited to females
exact
female restricted epilepsy with intellectual deficit
related
female restricted epilepsy with intellectual disability
exact