MENTAL RETARDATION, X-LINKED 90

General Information (adopted from Orphanet):

Synonyms, Signs: MRX90
Number of Symptoms 12
OrphanetNr:
OMIM Id: 300850
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:0000805) Enuresis 11 / 7739
2
 (HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
3
 (HPO:0000582) Upslanted palpebral fissure rare [HPO:skoehler] 185 / 7739
4
 (HPO:0000486) Strabismus 576 / 7739
5
 (HPO:0000708) Behavioral abnormality 212 / 7739
6
 (HPO:0001263) Global developmental delay 853 / 7739
7
 (HPO:0001249) Intellectual disability 15185169 IBIS 1089 / 7739
8
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
9
 (HPO:0000750) Delayed speech and language development 197 / 7739
10
 (HPO:0000774) Narrow chest rare [HPO:skoehler] 167 / 7739
11
 (HPO:0001252) Muscular hypotonia 990 / 7739
12
 (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. (2004) reported 4 families in each of which at least 2 males had moderate to severe nonsyndromic X-linked mental retardation.
Molecular genetics OMIM In affected members of 4 of 329 families with moderate to severe X-linked mental retardation, Tarpey et al. (2004) identified truncating mutations in the human DLG3 gene (300189.0001-300189.0004).