AUTISM, SUSCEPTIBILITY TO, 5

General Information (adopted from Orphanet):

Synonyms, Signs: AUTISM-RELATED SPEECH DELAY
PHRASE SPEECH DELAY, AUTISM-RELATED
AUTS5
Number of Symptoms 4
OrphanetNr:
OMIM Id: 606053
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000717) Autism 108 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Delayed onset of phrase speech (> 36 months) 1 / 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 - Associations Pending Confirmation

Using denaturing high-performance liquid chromatography (DHPLC) analysis to detect DNA sequence variants, Bacchelli et al. (2003) excluded 9 candidate disease genes at the 2q locus between markers D2S2370 and D2S364. The authors ...