Disease - Autism, X-linked 6

  • Definition
    A form of autism, a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate intellectual disability. AUTSX6 patients may respond favorably to carnitine supplementation.
  • Acronym
    AUTSX6
  • Alternative names
    • Epsilon-trimethyllysine hydroxylase deficiency
    • TMLHED
  • Keywords
  • Cross references

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