Phenotype #0000338741
| Individual ID |
00449567 |
| Associated disease |
MDC1A |
| Diagnosis/Initial |
- |
| Diagnosis/Definite |
MDC1A (# 607855) |
| Inheritance |
Familial, autosomal recessive |
| Phenotype details |
Congenital onset (HP:0003577) Inability to walk (HP:0002540) Absent muscle fiber merosin (HP:0030091) |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
María Eugenia Foncuberta |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
María Eugenia Foncuberta |
| Date created |
2024-04-26 15:53:07 +02:00 (CEST) |
| Date last edited |
2024-04-29 10:26:05 +02:00 (CEST) |
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