MENTAL RETARDATION, AUTOSOMAL DOMINANT 8

General Information (adopted from Orphanet):

Synonyms, Signs: MRD8
Number of Symptoms 2
OrphanetNr:
OMIM Id: 614254
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 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. They sequenced 197 genes encoding glutamate receptors and a large subset of their interacting proteins ...
Molecular genetics OMIM In a 10-year-old girl with moderate mental retardation, Hamdan et al. (2011) identified a missense mutation in the GRIN1 gene (E662K; 138249.0001). In a 7.5-year-old boy with severe mental retardation and seizures, they detected an in-frame duplication of ...