MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
MRT31
|
|
Number of Symptoms
|
3
|
|
OrphanetNr:
|
|
|
OMIM Id:
|
614329
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
Autosomal recessive inheritance
[Omim]
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
No data available.
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(OMIM)
|
Mental retardation, moderate to severe |
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |
Additional Information:
|
Clinical Description
OMIM
|
Kuss et al. (2011) reported a consanguineous Iranian family (8700017) in which 4 individuals had moderate to severe nonsyndromic mental retardation.
|