Phenotype #0000268191
| Individual ID |
00372915 |
| Associated disease |
OI |
| Phenotype details |
2.33 y-first fracture, 18 fractures; scoliosis; no blue sclerae; dentinogenesis imperfecta; no hearing loss; not able to walk independently; no ptosis |
| Diagnosis/Initial |
osteogenesis imperfecta |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
OI6 |
| Age/Examination |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Xiuli Zhao |
| Database submission license |
No license selected |
| Created by |
Xiuli Zhao |
| Date created |
2018-09-25 13:47:18 +02:00 (CEST) |
| Date last edited |
2026-01-12 09:08:25 +01:00 (CET) |
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