Global Variome shared LOVD

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Phenotype #0000159045 Individual ID 00210480 Associated disease DSMA1 Phenotype details infantile form, bilateral varus foot (at birth); 11y-FVC 47%; sit-12m,no walk-4y, no sit-10y Diagnosis/Initial distal spinal muscualr atrophy Inheritance Isolated (sporadic) Diagnosis/Definite DSMA-1 Age/Examination - Age/Diagnosis - Age/Onset 12m Phenotype/Onset frequent falls and unable to rise from supine positon Protein - Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-09-01 14:10:22 +02:00 (CEST) Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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