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encephalopathy due to defective mitochondrial and peroxisomal fission 2

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy.
Mondo Term and Equivalent IDs
MONDO:0014905:  encephalopathy due to defective mitochondrial and peroxisomal fission 2
Orphanet:485421: 
UMLS:C4310726: