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GENATLAS PHENOTYPE
last update : 18-05-2016
Symbol AUTSX6
Location Xq28
Name autism spectrum disorder, X-linked 6
Corresponding gene TMLHE
Main clinical features
  • neurodevelopmental disorder that affects only males
  • characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior
  • dysregulation of carnitine metabolism may be important in nondysmorphic autism
  • Genetic determination sex linked
    Function/system disorder neurology
    Type disease
    Remark(s) . deletion of exon 2 had low or undetectable TMLHE enzyme activity, and heterozygous mothers had reduced activity compared with healthy males (PMID: 22566635))
  • carnitine supplementation may be useful in treating (and potentially preventing) regressive episodes in patients with carnitine deficiency (PMID: 25943046))