ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2

General Information (adopted from Orphanet):

Synonyms, Signs: ASPGX2
Number of Symptoms 15
OrphanetNr:
OMIM Id: 300497
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Multifactorial
[Omim]
Age of onset: Juvenile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000721) Lack of spontaneous play 11 / 7739
2
(HPO:0000733) Stereotypy 58 / 7739
3
(HPO:0000758) Impaired use of nonverbal behaviors 11 / 7739
4
(HPO:0000732) Inflexible adherence to routines or rituals 11 / 7739
5
(HPO:0000728) Impaired ability to form peer relationships 8 / 7739
6
(HPO:0000735) Impaired social interactions 20 / 7739
7
(HPO:0000717) Autism 108 / 7739
8
(HPO:0000723) Restrictive behavior 11 / 7739
9
(HPO:0001417) X-linked inheritance 173 / 7739
10
(HPO:0001426) Multifactorial inheritance 37 / 7739
11
(OMIM) Normal, timely language development 4 / 7739
12
(OMIM) Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures 11 / 7739
13
(HPO:0003621) Juvenile onset 105 / 7739
14
(OMIM) Relatively higher cognitive abilities than classic autism 4 / 7739
15
(OMIM) Stereotyped, repetitive behavior 11 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Molecular genetics OMIM In a boy with X-linked Asperger syndrome, Jamain et al. (2003) identified a mutation in the NLGN4 gene (300427.0001). His brother, who had X-linked autism (300495), had the same mutation.