TREMOR, HEREDITARY ESSENTIAL, AND IDIOPATHIC NORMAL PRESSURE HYDROCEPHALUS
General Information (adopted from Orphanet):
Synonyms, Signs: |
ETINPH |
Number of Symptoms | 7 |
OrphanetNr: | |
OMIM Id: |
611808
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0000256) | Macrocephaly | 298 / 7739 | ||||
|
(HPO:0001337) | Tremor | 200 / 7739 | ||||
|
(HPO:0001288) | Gait disturbance | 318 / 7739 | ||||
|
(HPO:0002119) | Ventriculomegaly | 253 / 7739 | ||||
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
(HPO:0002343) | Normal pressure hydrocephalus | 6 / 7739 | ||||
|
(MedDRA:10015496) | Essential tremor | 4 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|