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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:0002490 | Increased CSF lactate |
| HP:0002643 | Neonatal respiratory distress |
| HP:0003128 | Lactic acidosis |
| HP:0003348 | Hyperalaninemia |
| HP:0003623 | Neonatal onset |
| HP:0003676 | Progressive |
| HP:0007021 | Pain insensitivity |
| HP:0007256 | Abnormal pyramidal sign |
| HP:0008936 | Axial hypotonia |
| HP:0010055 | Broad hallux |
