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Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1

Disease ID: disease_node_20322

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DbxrefMIM:614388
SubclassofDOID_225
Data SourceDOID
Doid Labelencephalopathy due to defective mitochondrial and peroxisomal fission 1
Doid DescriptionA 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.
Has SymptomSYMP_0020049
Disease Node Iddisease_node_20322
Doid IdDOID_0070347
LabelEncephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1