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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