Disease - Autism, X-linked 6
- DefinitionA 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.
- AcronymAUTSX6
- Alternative names
- Keywords
- Cross references
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Browse 1 entry- Trimethyllysine dioxygenase, mitochondrial · Gene: TMLHE (TMLH) · Homo sapiens (Human) · EC:1.14.11.8 · 421 amino acids · Evidence at protein level · Annotation score: 5/5