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GENATLAS PHENOTYPE
last update : 23-04-2013
Symbol CRATD
Location 9p34.1
Name carnitine acetyltransferase deficiency
Corresponding gene CRAT
Main clinical features
  • intermittent ataxia, oculomotor palsy, hypotonia, mental confusion, and disturbances of consciousness, poor respiration and failure to thrive
  • Genetic determination not applicable
    Function/system disorder metabolism/lipoprotein-lipid
    Type disease
    Remark(s)