DNM1L encodes dynamin 1 like (736 aa). Functions in mitochondrial and peroxisomal division. Highest expression in Brain Cerebellar Hemisphere (97.7 TPM) and Brain Cerebellum (77.6 TPM).

Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 is associated with mutations in the DNM1L gene on chromosome 12.

DNM1L is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for DNM1L is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 has been reported in the published literature.

Phenotype severity distribution: 23 always present features, 1 very common feature, 11 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1.

5 publications have been identified in PubMed for encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1. Research spans Basic Science / Preclinical (60%), Diagnostic / Biomarker (20%), and Review / Meta-Analysis (20%).

Recent Publications

• Xu H (2026). [PMID: 42687971](https://pubmed.ncbi.nlm.nih.gov/42687971/). *Front Neurol*. [Diagnostic / Biomarker]

• Magistrati M (2025). [PMID: 39859560](https://pubmed.ncbi.nlm.nih.gov/39859560/). *International journal of molecular sciences*. [Review / Meta-Analysis]

• Yang L (2025). [PMID: 41296099](https://pubmed.ncbi.nlm.nih.gov/41296099/). *Molecular neurobiology*. [Basic Science / Preclinical]

• Wang YX (2025). [PMID: 40540175](https://pubmed.ncbi.nlm.nih.gov/40540175/). *Molecular neurobiology*. [Basic Science / Preclinical]

• Wang Y (2025). [PMID: 40125832](https://pubmed.ncbi.nlm.nih.gov/40125832/). *CNS neuroscience &amp; therapeutics*. [Basic Science / Preclinical]