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Metadata
ID DOID:0060994
Name encephalopathy due to defective mitochondrial and peroxisomal fission 2
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.
https://pubmed.ncbi.nlm.nih.gov/26783368/
Xrefs

MIM:617086

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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