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Results 1 - 2 of 2 for "3-methylglutaconic" aciduria with "deafness," "encephalopathy," "Leigh-like" syndrome
Did you mean "3-methylglutaconic" aciduria with "deafness," "encephalopathy," "light-like" syndrome?
  1. MEGDEL syndrome 
    ... with sensorineural deafness, encephalopathy, and Leigh-like syndrome 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MEGDHEL syndrome SERAC1 defect Genetic Testing Registry: 3- ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  2. SERAC1 gene 
    ... hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. Am J ...
    https://medlineplus.gov/genetics/gene/serac1 - Genetics