encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
MONDO:0013726Mondo
Findings
No curated finding names encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset · Fetal onset · Childhood onset
HPO, annotations 2026-09-02
Features
134 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.
- Abnormal CNS myelinationHPOHP:0011400
- 1 of 1 reported patient
- Abnormal CSF lactate concentrationHPOHP:0030085
- 1 of 1 reported patient
- Abnormal visual fixationHPOHP:0025404
- 1 of 1 reported patient
- Abnormality of mitochondrial metabolismHPOHP:0003287
- 1 of 1 reported patient
- Aggressive behaviorHPOHP:0000718
- 1 of 1 reported patient
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- ArteritisHPOHP:0012089
- 1 of 1 reported patient
- AthetosisHPOHP:0002305
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 1 of 1 reported patient
- Blue scleraeHPOHP:0000592
- 1 of 1 reported patient
Show the remaining 122
- Broad halluxHPOHP:0010055
- 1 of 1 reported patient
- Broad thumbHPOHP:0011304
- 1 of 1 reported patient
- Cardiogenic shockHPOHP:0030149
- 1 of 1 reported patient
- CardiomyopathyHPOHP:0001638
- 1 of 1 reported patient
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
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.
- DNM1LHGNC:2973
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- Also called
- DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defectlethal encephalopathy due to mitochondrial and peroxisomal fission defect