encephalopathy due to defective mitochondrial and peroxisomal fission 2

Term ID

DOID:0060994

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. https://pubmed.ncbi.nlm.nih.gov/26783368/

References

• MIM:617086

Ontology

Human Disease   ( DOID:0060994 )