Individual ID |
00395657 |
Associated disease |
- |
Phenotype details |
2y-died in sleep 1 week after flu-like illness; birth normal; early development normal; normal speech until death; normal motor development but then deteriorated; 24m-onset seizures; generalized tonic-clonic seizure; no intellectual disability until death; phenotype exacerbated by illness and/or stress; progressive weakness |
Diagnosis/Initial |
neurodegenerative disorder |
Inheritance |
Familial, autosomal recessive |
Diagnosis/Definite |
CONDSIAS |
Age/Examination |
2y (2 years) |
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 |
2021-12-08 21:39:46 +01:00 (CET) |
Date last edited |
N/A |