| Concept UI |
CON00629 (Tree)
|
| Name |
Mental retardation, autosomal recessive 15
|
| Aliases |
MRT15
|
| Disease name: Preferred Term |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
|
| Disease name: Preferred Term ABBR |
MRT15
|
| UMLS CUI |
C3280127
|
| OMIM DATA: Gene |
MAN1B1
|
| OMIM DATA: Gene Number |
604346
|
| OMIM DATA: Phenotype Number |
614202
|
|
Symptoms, signs and abnormal clinical and laboratory findings
|
- Brain Diseases
- Craniofacial Abnormalities
- Intellectual Disability (Mental Retardation)
- Language Disorders
- Maxillofacial Abnormalities
- Mental Disorders Diagnosed in Childhood
- Musculoskeletal Abnormalities
- Neurobehavioral Manifestations
- Neurologic Manifestations
- Seizures
- Speech Disorders
- Stomatognathic System Abnormalities
- Epilepsy
- Hypertelorism
- Psychomotor Disorders
- Craniofacial Dysostosis
- Obesity
- Overnutrition
|
|
References
|
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317. Table 1 Diseases of glycosylation.
- Hennet T (2012) Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta 1820(9):1306-1317.
|