Phenotype #0000092255
| Individual ID |
00116776 |
| Associated disease |
SMA2 |
| Phenotype details |
first diagnosed as SMA type 2/3, sit unaided and stand while holding onto something, at 2y rapidly lost these abilities; 3y-bound to artificial ventilator (respiratory insufficiency) |
| Diagnosis/Initial |
- |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
- |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
1y |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Hisahide Nishio |
| Database submission license |
No license selected |
| Created by |
Hisahide Nishio |
| Date created |
2014-11-12 21:09:46 +01:00 (CET) |
| Date last edited |
N/A |
|