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encephalopathy due to defective mitochondrial and peroxisomal fission 1
Summary
- Definition
- A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0070347
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001272 | Cerebellar atrophy |
| HP:0011471 | Gastrostomy tube feeding in infancy |
| HP:0001488 | Bilateral ptosis |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0000486 | Strabismus |
| HP:0002355 | Difficulty walking |
| HP:0006801 | Hyperactive deep tendon reflexes |
| HP:0001332 | Dystonia |
| HP:0012103 | Abnormality of the mitochondrion |
| HP:0002069 | Bilateral tonic-clonic seizure |
