OBO ID: DOID:0070347
Term Name: encephalopathy due to defective mitochondrial and peroxisomal fission 1 Search Ontology:
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. (2)
References:
Ontology: Human Disease   ( DOID:0070347 )
Relationships
is a type of:
OTHER encephalopathy due to defective mitochondrial and peroxisomal fission 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DNM1L Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 614388
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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