MENTAL RETARDATION, AUTOSOMAL DOMINANT 10

General Information (adopted from Orphanet):

Synonyms, Signs: MRD10
Number of Symptoms 2
OrphanetNr:
OMIM Id: 614256
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001249) Intellectual disability 1/1 [HPO:probinson] 1089 / 7739
2
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hamdan et al. (2011) hypothesized that de novo mutations in synaptic genes explain an important fraction of sporadic nonsyndromic intellectual disability (NSID) cases. In order to investigate the possibility, they sequenced 197 genes encoding glutamate receptors and a ...
Molecular genetics OMIM Hamdan et al. (2011) identified a missense mutation in the CACNG2 gene (V143L; 602911.0001) in 1 patient with sporadic nonsyndromic intellectual disability. Functional assays showed that this mutation significantly decreased stargazin's ability to bind to GLUR1 (138248) or ...