MENTAL RETARDATION, X-LINKED 50

General Information (adopted from Orphanet):

Synonyms, Signs: MRX50
Number of Symptoms 2
OrphanetNr:
OMIM Id: 300115
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:0001256) Intellectual disability, mild 141 / 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 Claes et al. (1997) added 2 families to the growing list of nonspecific X-linked mental retardation (XLMR) families in which the disease gene could be mapped to a specific site on the X chromosome. The first family reported ...