Metadata | |
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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 | |
Parent Relationships |
is_a syndrome |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |