MENTAL RETARDATION, AUTOSOMAL DOMINANT 11

General Information (adopted from Orphanet):

Synonyms, Signs: MRD11
Number of Symptoms 2
OrphanetNr:
OMIM Id: 614257
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. To investigate the possibility, they sequenced 197 genes encoding glutamate receptors and a large subset ...
Molecular genetics OMIM In a patient with nonsyndromic intellectual disability, Hamdan et al. (2011) identified a heterozygous missense mutation in the EPB41L1 gene (P854S; 602879.0001). This mutation affects a highly conserved proline in the C-terminal domain of the 4.1N protein, which ...