| Concept UI |
CON00630 (Tree)
|
| Name |
Mental retardation, autosomal recessive 12
|
| Aliases |
MRT12
|
| Disease name: Preferred Term |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12
|
| Disease name: Preferred Term ABBR |
MRT12
|
| UMLS CUI |
C1970200
|
| UMLS SAB |
MeSH (SCR)
|
| UMLS CODE |
C567019
|
| OMIM DATA: Gene |
ST3GAL3
|
| OMIM DATA: Gene Number |
606494
|
| OMIM DATA: Phenotype Number |
611090
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Intellectual Disability (Mental Retardation)
- Mental Disorders Diagnosed in Childhood
- Neurobehavioral Manifestations
- Stomatognathic System Abnormalities
- Tooth Abnormalities
|
|
References
|
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
|
GGDB (Gene Symbol)
Link to the GlycoGene Database |
ST3GAL3
|