Clinical features
Autosomal recessive mutations in the MFF gene cause encephalopathy due to defective mitochondrial and peroxisomal fission 2, which is characterized by severe hypotonia, developmental delay, microcephaly, and abnormal signals in the basal ganglia. Other more variable features include peripheral neuropathy, optic atrophy, and seizures.
Prevalence
The prevalence of MFF-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
MFF-related disorders are inherited in an autosomal recessive manner.