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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:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000307 | Pointed chin |
| HP:0000490 | Deeply set eye |
| HP:0000543 | Optic disc pallor |
| HP:0000657 | Oculomotor apraxia |
| HP:0000666 | Horizontal nystagmus |
| HP:0000711 | Restlessness |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
