| Individual ID |
00095104 |
| Associated disease |
EDS |
| Inheritance |
Familial, X-linked recessive |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Onset |
05y |
| Phenotype/Onset |
- |
| Phenotype details |
pectus carinatum(HP0000768) scoliosis (HP0002650) mitral valve prolaps (HP0001634) aortic dilatation (HP0001724) soft skin (HP0000977) spontaneous pneumothorax (HP0002108) diaphragmatic eventration (HP0009110) |
| Hearing/Loss |
- |
| Protein |
- |
| CK-level |
- |
| EMG |
- |
| Muscle/Biopsy |
- |
| Age/Diagnosis |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2016-09-23 13:46:49 +02:00 (CEST) |
| Date last edited |
2016-10-09 15:20:40 +02:00 (CEST) |