Phenotype #0000092251
Individual ID |
00116772 |
Associated disease |
SMA3 |
Phenotype details |
11y-pain/heaviness in legs during exercise; later developed symptoms including waddling gait, muscle weakness and atrophy in quadriceps, attenuated patellar tendon reflex; able to walk |
Diagnosis/Initial |
- |
Inheritance |
Familial, autosomal recessive |
Diagnosis/Definite |
- |
Age/Examination |
- |
Age/Diagnosis |
13y |
Age/Onset |
11y |
Phenotype/Onset |
type 3 |
Protein |
- |
Owner name |
Hisahide Nishio |
Database submission license |
No license selected |
Created by |
Hisahide Nishio |
Date created |
2014-11-11 14:47:43 +01:00 (CET) |
Date last edited |
2014-11-12 21:12:59 +01:00 (CET) |
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