Phenotype #0000029040
| Individual ID |
00038521 |
| Associated disease |
NPS |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Initial |
- |
| Age/Examination |
- |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Phenotype details |
flexus adductus thumbs, bent hands with overlapping fingers, limited joint mobility especially at elbows and knees, left equinovarus, talus of the right foot, short and stocky foot, absent patella, bilateral agenesis of the thumb nails, dysplasia of the other fingernails, thoracic kyphosis |
| Protein |
- |
| Owner name |
Sophie Nambot |
| Database submission license |
No license selected |
| Created by |
Sophie Nambot |
| Date created |
2015-05-14 12:48:36 +02:00 (CEST) |
| Date last edited |
2016-06-17 11:04:54 +02:00 (CEST) |
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