T-SUBSTANCE ANOMALY
General Information (adopted from Orphanet):
Synonyms, Signs: |
|
Number of Symptoms | 5 |
OrphanetNr: | |
OMIM Id: |
276200
|
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:
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
(HPO:0001510) | Growth delay | 295 / 7739 | ||||
|
(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
|
(OMIM) | Physical retardation | 3 / 7739 | ||||
|
(OMIM) | Unidentified T-substance in urine | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|