developmental and epileptic encephalopathy, 39
A rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
MONDO:0016801
mitochondrial substrate carrier disorder
is_a
MONDO:0020070
neonatal epilepsy syndrome
is_a
MONDO:0100455
neonatal-onset developmental and epileptic encephalopathy
is_a
AGC1 deficiency
exact
DEE39
exact
EIEE39
exact
SLC25A12 early infantile epileptic encephalopathy
exact
early infantile epileptic encephalopathy caused by mutation in SLC25A12
exact
epileptic encephalopathy with global cerebral demyelination
exact
epileptic encephalopathy, early infantile, 39
exact
mitochondrial aspartate-glutamate carrier 1 deficiency
exact