Search Ontology:
Human Disease

encephalopathy due to defective mitochondrial and peroxisomal fission 1

Term ID
DOID:0070347
Synonyms
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://www.ncbi.nlm.nih.gov/pubmed/30850373
References
Ontology
Human Disease   ( DOID:0070347 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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