Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 16-12-2015
Symbol EMPF
Location 12p11.21
Name encephalopahty, lethal, due to defective mitochondrial peroxisomal fission
Corresponding gene DNM1L
Main clinical features
  • systemic disorder resulting in lack of neurologic development and death in infancy
  • in the first week of life with poor feeding and neurologic impairment, including hypotonia, little spontaneous movement, no tendon reflexes, no response to light stimulation, and poor visual fixation
  • optic discs were pale and cupped, and MRI showed an abnormal gyral pattern associated with dysmyelination
  • also seizures, lactic acidosis, elevated very long chain fatty acids, and abnormally elongated mitochondria and peroxisomes
  • Genetic determination not applicable
    Function/system disorder mental retardation
    neurology
    metabolism/peroxisomal
    Type disease
    Remark(s)