AUTISM, SUSCEPTIBILITY TO, X-LINKED 3

General Information (adopted from Orphanet):

Synonyms, Signs: AUTSX3
Number of Symptoms 25
OrphanetNr:
OMIM Id: 300496
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0005324) Disturbance of facial expression 2 / 7739
2
(HPO:0000758) Impaired use of nonverbal behaviors 11 / 7739
3
(HPO:0000717) Autism 108 / 7739
4
(HPO:0000721) Lack of spontaneous play 11 / 7739
5
(HPO:0000735) Impaired social interactions 20 / 7739
6
(HPO:0000733) Stereotypy 58 / 7739
7
(HPO:0002353) EEG abnormality frequent [HPO] 188 / 7739
8
(HPO:0002332) Lack of peer relationships 3 / 7739
9
(HPO:0001250) Seizures frequent [HPO] 1245 / 7739
10
(HPO:0000750) Delayed speech and language development 197 / 7739
11
(HPO:0000732) Inflexible adherence to routines or rituals 11 / 7739
12
(HPO:0001249) Intellectual disability 1089 / 7739
13
(HPO:0000723) Restrictive behavior 11 / 7739
14
(HPO:0003144) Increased serum serotonin frequent [HPO] 7 / 7739
15
(HPO:0001417) X-linked inheritance 173 / 7739
16
(OMIM) EEG abnormalities in 20-50% 6 / 7739
17
(OMIM) Seizures in 15-30% 7 / 7739
18
(OMIM) Increased serum serotonin in 25% 7 / 7739
19
(HPO:0003745) Sporadic 131 / 7739
20
(OMIM) Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures 11 / 7739
21
(HPO:0011463) Childhood onset 65 / 7739
22
(OMIM) Mental retardation in 75% 7 / 7739
23
(OMIM) Stereotyped, repetitive behavior 11 / 7739
24
(OMIM) Impaired language development 6 / 7739
25
(HPO:0001426) Multifactorial inheritance 37 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, ...
Molecular genetics OMIM Lam et al. (2000) and Carney et al. (2001) identified mutations in the MECP2 gene in sporadic cases of autism, whereas no mutations in the MECP2 gene were found in a sample of 59 autistic individuals by Vourc'h ...