MENTAL RETARDATION, AUTOSOMAL DOMINANT 6

General Information (adopted from Orphanet):

Synonyms, Signs: MRD6
Number of Symptoms 4
OrphanetNr:
OMIM Id: 613970
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:0002353) EEG abnormality 188 / 7739
2
(HPO:0000708) Behavioral abnormality 212 / 7739
3
(HPO:0001249) Intellectual disability 1089 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Endele et al. (2010) reported 2 unrelated German boys with mental retardation associated with 2 different de novo chromosome translocations, t(9;12)(p23;p13.1) and t(10;12)(q21.1;p13.1), respectively, with a common breakpoint in 12p13.1 that disrupted the GRIN2B gene. The first boy ...
Molecular genetics OMIM In 4 of 468 patients with mental retardation, Endele et al. (2010) identified 4 different de novo heterozygous mutations in the GRIN2B gene (138252.0001-138252.0004).

By sequencing 44 candidate genes in 2,446 autism spectrum disorder probands, O'Roak ...