| Individual ID |
00306893 |
| Associated disease |
CAAHD |
| Inheritance |
Familial, autosomal recessive |
| Phenotype details |
distinct congenital arthrogryposis, prolonged survival after birth; autopsy revealed typical neurogenic muscle atrophy, loss of anterior horn cells spinal cord |
| Diagnosis/Initial |
severe infantile spinal muscular atrophy |
| Age/Examination |
- |
| Diagnosis/Definite |
CAAHD |
| 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 |
2020-07-21 21:49:16 +02:00 (CEST) |
| Date last edited |
2020-07-21 21:52:04 +02:00 (CEST) |