encephalopathy due to defective mitochondrial and peroxisomal fission 2
MONDO:0014905Mondo
Findings
No curated finding names encephalopathy due to defective mitochondrial and peroxisomal fission 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Progressive · Death in childhood
HPO, annotations 2026-09-02
Features
31 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Developmental regressionHPOHP:0002376
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- HypsarrhythmiaHPOHP:0002521
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Muscle weaknessHPOHP:0001324
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Secondary microcephalyHPOHP:0005484
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- SpasticityHPOHP:0001257
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- 3 of 4 reported patients
- External ophthalmoplegiaHPOHP:0000544
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Optic disc pallorHPOHP:0000543
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 19
- SeizureHPOHP:0001250
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Visual impairmentHPOHP:0000505
- 3 of 4 reported patients
- Frequent (30% to 79% of cases)
- Cerebellar atrophyHPOHP:0001272
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
- Abnormal basal ganglia MRI signal intensityHPOHP:0012751
- Frequent (30% to 79% of cases)
- Abnormal mitochondrial shapeHPOHP:0012087
- Frequent (30% to 79% of cases)
- Abnormal nonverbal communicative behaviorHPOHP:0000758
Genes
1 gene
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.
- MFFHGNC:24858
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
4 names
Resolves to: encephalopathy due to defective mitochondrial and peroxisomal fission 2
- Also called
- EMPF2encephalopathy due to defective mitochondrial and peroxisomal fission type 2Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndromeMFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect