Term Name: | encephalopathy due to defective mitochondrial and peroxisomal fission 2 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0060994] ( DOID:0060994 ) |