FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term encephalopathy due to defective mitochondrial and peroxisomal fission 2 ID (Ontology) DOID:0060994 (Human Disease)
Definition A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36.
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 encephalopathy due to defective mitochondrial and peroxisomal fission 2       1
 for disease ribbon | encephalopathy due to defective mitochondrial and peroxisomal fission 2       1
 model of | encephalopathy due to defective mitochondrial and peroxisomal fission 2       1
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 encephalopathy due to defective mitochondrial and peroxisomal fission 2  1 rec.
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Is a autosomal recessive disease
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MIM:617086