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GENATLAS PHENOTYPE
last update : 29-04-2013
Symbol MEGDEL
Location 6q25.3
Name 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Corresponding gene SERAC1
Main clinical features
  • childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid
  • brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)