Phenotype #0000029036
| Individual ID |
00038516 |
| Associated disease |
NPS |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Initial |
- |
| Age/Examination |
04y (4 years) |
| Diagnosis/Definite |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Phenotype details |
bilateral bowed radial diaphyses with absent radial cupules, bilateral coxa valga, fingernail dysplasia, thoraco-lumbar scoliosis with double convexity, leg asymmetry, right foot valgus,instability of the patella, normal renal function |
| Protein |
- |
| Owner name |
Sophie Nambot |
| Database submission license |
No license selected |
| Created by |
Sophie Nambot |
| Date created |
2015-05-14 11:04:08 +02:00 (CEST) |
| Date last edited |
2016-06-17 11:21:02 +02:00 (CEST) |
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