| Metadata | |
|---|---|
| ID | DOID:0070347 |
| Name | encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
| 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. https://omim.org/entry/614388, https://www.ncbi.nlm.nih.gov/pubmed/30850373 |
| Xrefs | |
| Parent Relationships |
is_a syndrome |