Disease ID | Source | Name | Description |
300872 | OMIM | Autism, X-linked 6 (AUTSX6) | 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. The disease is caused by variants affecting the gene represented in this entry. |