Global Variome shared LOVD

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Phenotype #0000044437 Individual ID 00057786 Associated disease SMA Phenotype details no death in teenage years, no myoclonic epilepsy, no serious pulmonary involvement; CPK: normal; waddling gait, limb weakness Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 30y Age/Onset 03y Phenotype/Onset - Protein - Owner name Mirella Filocamo Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2016-01-21 15:08:09 +01:00 (CET) Date last edited 2016-01-24 09:29:18 +01:00 (CET)

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