MENTAL RETARDATION, X-LINKED 58

General Information (adopted from Orphanet):

Synonyms, Signs: MRX58
Number of Symptoms 2
OrphanetNr:
OMIM Id: 300210
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 Holinski-Feder et al. (1999) described an Austrian family with nonsyndromic X-linked mental retardation. The 5 affected males in the family had mild to moderate mental retardation and no consistent dysmorphic features, while obligatory carrier females were normal.
Molecular genetics OMIM In the affected family reported by Holinski-Feder et al. (1999), Abidi et al. (2002) identified a 2-bp deletion (300096.0003) in the TM4SF2 gene, resulting in a premature stop codon and truncated protein.

In 2 unrelated families ...