Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 - Ontology Browser

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Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2 (DOID:9002077)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)

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Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission + is-a

encephalopathy due to defective mitochondrial and peroxisomal fission 1

Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2

An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. (OMIM)

Synonyms
Exact Synonyms:	EMPF2 ; Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome ; MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Primary IDs:	OMIM:617086
Xrefs:	MONDO:0014905 ; ORDO:485421

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