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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:0000648 | Optic atrophy |
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0012707 | Elevated brain lactate level by MRS |
| HP:0002381 | Aphasia |
| HP:0001344 | Absent speech |
| HP:0010553 | Oculogyric crisis |
| HP:0001263 | Global developmental delay |
| HP:0002650 | Scoliosis |
| HP:0002133 | Status epilepticus |
| HP:0000006 | Autosomal dominant inheritance |
