encephalopathy due to mitochondrial and peroxisomal fission defect
A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities.
MONDO:0005560
brain disorder
is_a
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
MONDO:0100276
disorder of defective peroxisomal and mitochondrial fission
is_a
MONDO:0100545
hereditary neurological disease
is_a
encephalopathy due to defective mitochondrial and peroxisomal fission
exact
encephalopathy due to mitochondrial and peroxisomal fission defect
exact
SPBC12C2.08 SPAC767.01c