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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:0001284 | Areflexia |
| HP:0001290 | Generalized hypotonia |
| HP:0001298 | Encephalopathy |
| HP:0001508 | Failure to thrive |
| HP:0001522 | Death in infancy |
| HP:0001558 | Decreased fetal movement |
| HP:0002059 | Cerebral atrophy |
| HP:0002188 | Delayed CNS myelination |
| HP:0002305 | Athetosis |
| HP:0002307 | Drooling |
