MENTAL RETARDATION, X-LINKED 41

General Information (adopted from Orphanet):

Synonyms, Signs: MENTAL RETARDATION, X-LINKED 48
MRX48
MRX41
Number of Symptoms 2
OrphanetNr:
OMIM Id: 300849
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001249) Intellectual disability 22002931 IBIS 1089 / 7739
2
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hamel et al. (1996) reported a family segregating mild to moderate mental retardation as an X-linked trait (MRX41).

Des Portes et al. (1997) reported a large 3-generation family segregating nonspecific X-linked mental retardation (MRX48). The pedigree ...

Molecular genetics OMIM D'Adamo et al. (1997,1998) demonstrated unique mutations in the RABGDIA gene in affected members of the MRX41 family (300104.0001) reported by Hamel et al. (1996) and the MRX48 family (300104.0002) reported by des Portes et al. (1997). ...