MENTAL RETARDATION, X-LINKED 45

General Information (adopted from Orphanet):

Synonyms, Signs: MRX45
Number of Symptoms 3
OrphanetNr:
OMIM Id: 300498
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000400) Macrotia 15121780 IBIS 108 / 7739
2
(HPO:0001249) Intellectual disability 15121780 IBIS 1089 / 7739
3
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hamel et al. (1999) described a 6-generation family segregating X-linked mental retardation. Affected members demonstrated nonprogressive mental retardation during childhood and had large, simple ears, relatively large hands, and normal behavior. The propositus also had clinodactyly of the ...
Molecular genetics OMIM In a female patient with severe mental retardation and a de novo translocation t(X;9)(p11.23;q34.3), Kleefstra et al. (2004) characterized the breakpoints and found that the translocation disrupted the ZNF81 gene. Mutation analysis in more than 300 families and ...