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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 mental retardation. AUTSX6 patients may respond favorably to carnitine supplementation.

Acronym

AUTSX6

Synonyms

Epsilon-trimethyllysine hydroxylase deficiency
TMLHED

Keywords

Autism

 
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