encephalopathy due to defective mitochondrial and peroxisomal fission 1 Disease Ontology Browser

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Disease Ontology Browser

encephalopathy due to defective mitochondrial and peroxisomal fission 1 (DOID:0070347)
Alliance: disease page
Alt IDs: OMIM:614388
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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