Asperger Syndrome, X-Linked 2 (ASPGX2)

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OMIM 58 300497 MeSH 45 D020817

MedGen 43 C1845334 SNOMED-CT via HPO 70 263934009 408856003 408857007 43614003 5507002 84328007 more

OMIM : ⁵⁸ Asperger syndrome is considered to be a form of childhood autism (see, e.g., 209850). The DSM-IV (American Psychiatric Association, 1994) specifies several diagnostic criteria for Asperger syndrome, which has many of the same features as autism. In general, patients with Asperger syndrome and autism exhibit qualitative impairment in social interaction, as manifest by impairment in the use of nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases. Gillberg et al. (2001) described the development of the Asperger syndrome (and high-functioning autism) Diagnostic Interview (ASDI), which they claimed has a strong validity in the diagnosis of the disorder. For a discussion of genetic heterogeneity of Asperger syndrome, see 608638. (300497)

MalaCards based summary : Asperger Syndrome, X-Linked 2, is also known as asperger syndrome x-linked 2. An important gene associated with Asperger Syndrome, X-Linked 2 is NLGN4X (Neuroligin 4 X-Linked). Affiliated tissues include eye, and related phenotypes are stereotypy and autism

UniProtKB/Swiss-Prot : ⁷⁶ Asperger syndrome, X-linked, 2: A syndrome with features similar to autism. Affected individuals exhibit qualitative impairment in social interaction, as manifest by impairment in the use of non-verbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures, failure to develop appropriate peer relationships, and lack of social sharing or reciprocity. Patients also exhibit restricted, repetitive and stereotyped patterns of behavior, interests, and activities, including abnormal preoccupation with certain activities and inflexible adherence to routines or rituals. Asperger syndrome is primarily distinguished from autism by the higher cognitive abilities and a more normal and timely development of language and communicative phrases.

Clinical features from OMIM:

300497

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