MENTAL RETARDATION, X-LINKED 96

General Information (adopted from Orphanet):

Synonyms, Signs: MRX96
Number of Symptoms 4
OrphanetNr:
OMIM Id: 300802
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
4
 (OMIM) Mental retardation, mild to moderate 33 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Tarpey et al. (2009) identified 4 families with X-linked mental retardation who had mutations in the SYP gene. In 3 families, all with truncating mutations, mental retardation was mild to moderate and there were no consistent additional features, ...
Molecular genetics OMIM The SYP mutations found by Tarpey et al. (2009) in 4 unrelated families with mental retardation included 3 truncating mutations and a missense mutation (313475.0001-313475.0002).