CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE
General Information (adopted from Orphanet):
Synonyms, Signs: |
|
Number of Symptoms | 8 |
OrphanetNr: | |
OMIM Id: |
302700
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
|
Age of onset: |
Juvenile onset [Omim] |
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0000618) | Blindness | 124 / 7739 | ||||
|
(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
|
(HPO:0001258) | Spastic paraplegia | 97 / 7739 | ||||
|
(HPO:0000726) | Dementia | 131 / 7739 | ||||
|
(HPO:0007340) | Lower limb muscle weakness | 61 / 7739 | ||||
|
(OMIM) | Leg weakness and spasticity | 1 / 7739 | ||||
|
(HPO:0003621) | Juvenile onset | 105 / 7739 | ||||
|
(HPO:0001417) | X-linked inheritance | 173 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|