| Individual ID |
00216508 |
| Associated disease |
HGPS |
| Phenotype details |
unusually severe progeria (details see paper) |
| Diagnosis/Initial |
Hutchinson-Gilford progeria syndrome |
| Inheritance |
Unknown |
| Diagnosis/Definite |
HGPS |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
0y |
| Phenotype/Onset |
- |
| Protein |
ratio progerin:LMNA 2.8 (0.9 for c.1824C>T) |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2008-05-18 14:07:30 +02:00 (CEST) |
| Date last edited |
2013-02-01 19:44:12 +01:00 (CET) |