MENTAL RETARDATION, X-LINKED 88

General Information (adopted from Orphanet):

Synonyms, Signs: MRX88
Number of Symptoms 4
OrphanetNr:
OMIM Id: 300852
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:0001250) Seizures 5/9 [HPO:probinson] 1245 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0000717) Autism 2/9 [HPO:probinson] 108 / 7739
4
 (HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Vervoort et al. (2002) reported 9 male patients with a mutation in the AGTR2 gene who had moderate to severe mental retardation. Five of the patients had seizures and, with the exception of 1 patient, they were not ...
Molecular genetics OMIM Vervoort et al. (2002) screened affected males from 33 families with possible X-linked MR but no definitive linkage data, and a large cohort of 552 unrelated male patients with MR of unknown cause but negative for the FMR1 ...