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GENATLAS PHENOTYPE
last update : 20/10/2005
Symbol ABAT
Location 16p13
Name GABA-transaminase deficiency
Corresponding gene ABAT
related resource MITOP database
Main clinical features
  • mental retardation, hypotonia and ataxia hyperreflexia, lethargy, refractory seizures, and EEG abnormalities
  • Genetic determination
    Function/system disorder neurology
    psychiatric disorder
    Type disease
    Gene product
    Name 4-aminobutyrate aminotransferase