Phenotype #0000129794
| Individual ID |
00164776 |
| Associated disease |
EDS |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Initial |
- |
| Age/Examination |
39y (39 years) |
| Diagnosis/Definite |
- |
| Age/Onset |
13y? |
| Phenotype/Onset |
Hyperextensible skin, Redundant skin, Dislocations, Joint hypermobility |
| Phenotype details |
Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Prominent superficial veins, Hernia, Mitral valve prolapse, Structural foot deformity, Prematurely aged appearance, kyphoscoliosis
, |
| Hearing/Loss |
normal |
| Protein |
- |
| CK-level |
- |
| EMG |
- |
| Muscle/Biopsy |
- |
| Age/Diagnosis |
39y |
| Owner name |
Moritz Hebebrand |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Moritz Hebebrand |
| Date created |
2018-06-12 14:29:10 +02:00 (CEST) |
| Date last edited |
2018-06-21 13:05:32 +02:00 (CEST) |
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