MENTAL RETARDATION, X-LINKED 1

General Information (adopted from Orphanet):

Synonyms, Signs: MRX18, INCLUDED
MRX MENTAL RETARDATION, X-LINKED 18, INCLUDED
MRX1
Number of Symptoms 2
OrphanetNr:
OMIM Id: 309530
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:0001249) Intellectual disability 1089 / 7739
2
(HPO:0001419) X-linked recessive inheritance 189 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. Mental retardation that is not associated with other distinguishing features is referred to as 'nonspecific.'

- Classification ...

Clinical Description OMIM Suthers et al. (1988) reported a large family in which multiple males spanning several generations had nonsyndromic X-linked mental retardation. Two developed psychiatric problems and 1 had infrequent seizures. Carrier females were 'less academically able compared to their ...
Molecular genetics OMIM In affected members of 4 unrelated families with X-linked nonsyndromic mental retardation (MRX1; 309530), Shoubridge et al. (2010) identified 4 different hemizygous mutations in the IQSEC2 gene (300522.0001-300522.0004). Two of the families had been reported by Suthers et ...
Population genetics OMIM Herbst (1980) reviewed 24 pedigrees ascertained in British Columbia; cytogenetic studies were not done. Based on this study, Herbst and Miller (1980) calculated an incidence of X-linked mental retardation of 1.83 per 1,000 live male births and a ...