Phenotype #0000208126
Individual ID |
00271548 |
Associated disease |
FAME |
Diagnosis/Initial |
cortical myoclonic tremor and epilepsy |
Diagnosis/Definite |
- |
Phenotype details |
see paper; ..., 5/5 generalized tonic clonic seizure, 5/5 cortical tremor, 4/5 complex partial seizure, 3/5 myoclonic jerks, 3/5 aura, 2/5 neuropsychiatric symptoms, IQ 78-86 |
Inheritance |
Familial, autosomal recessive |
Age/Examination |
21y-39y |
Age/Diagnosis |
- |
Age/Onset |
- |
Phenotype/Onset |
- |
Protein |
- |
Owner name |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2019-12-20 10:33:36 +01:00 (CET) |
Date last edited |
2019-12-20 10:43:32 +01:00 (CET) |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|