Term Name: encephalopathy due to defective mitochondrial and peroxisomal fission 2
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 )

Relationships
is a type of: autosomal recessive disease syndrome