encephalopathy due to mitochondrial and peroxisomal fission defect
Findings
No curated finding names encephalopathy due to mitochondrial and peroxisomal fission defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0054865), read 2026-09-29. CC BY 4.0.
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
1 name
Resolves to: encephalopathy due to mitochondrial and peroxisomal fission defect
- Also called
- encephalopathy due to defective mitochondrial and peroxisomal fission