Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000079416 Individual ID 00101195 Associated disease GSD2 Phenotype details late onset, waddling gait, muscle atrophy and lipid infiltration as seen on MRI of bilateral leg hip adductors and gluteus. Nasal voice. No respiratory failure or dyspnea Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Arnold Reuser Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2006-10-26 10:00:00 +02:00 (CEST) Date last edited N/A

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