MENTAL RETARDATION, X-LINKED 97

General Information (adopted from Orphanet):

Synonyms, Signs: MRXZ
MRX97
Number of Symptoms 2
OrphanetNr:
OMIM Id: 300803
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 19377476 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 Tarpey et al. (2009) identified 2 families with X-linked mental retardation and mutations in the ZNF711 gene. Mental retardation was moderate without consistent additional distinctive features. One affected individual did not carry a ZNF711 mutation.
Molecular genetics OMIM Tarpey et al. (2009) sequenced the coding exons of the X chromosome in 208 families with X-linked mental retardation. They identified 2 truncating mutations in the ZNF711 gene in 2 unrelated families.