Global Variome shared LOVD

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Phenotype #0000159040 Individual ID 00210475 Associated disease DSMA1 Phenotype details Atypical SMARD1 presentation; walk-27m Diagnosis/Initial distal spinal muscualr atrophy Inheritance Isolated (sporadic) Diagnosis/Definite DSMA-1 Age/Examination - Age/Diagnosis - Age/Onset <2y6m Phenotype/Onset delayed motor milestones, distal muscle weakness Protein - Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-08-13 19:32:10 +02:00 (CEST) Date last edited 2012-03-09 18:26:59 +01:00 (CET)

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