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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:0011304 | Broad thumb |
| HP:0011968 | Feeding difficulties |
| HP:0012169 | Self-biting |
| HP:0200134 | Epileptic encephalopathy |
