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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:0002376 | Developmental regression |
| HP:0001337 | Tremor |
| HP:0007359 | Focal-onset seizure |
| HP:0001250 | Seizure |
| HP:0002540 | Inability to walk |
| HP:0012569 | Delayed menarche |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0000639 | Nystagmus |
| HP:0002151 | Increased circulating lactate concentration |
| HP:0003202 | Skeletal muscle atrophy |
