Global Variome shared LOVD

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

Phenotype #0000159043 Individual ID 00210478 Associated disease DSMA1 Phenotype details Mild facial diplegia; hypertension; cholelithiasis; excessive sweating; no motor ability Diagnosis/Initial distal spinal muscualr atrophy Inheritance Isolated (sporadic) Diagnosis/Definite DSMA-1 Age/Examination - Age/Diagnosis - Age/Onset 14d Phenotype/Onset apneic episodes, feeding problems Protein - Owner name Jorge Oliveira Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2011-08-19 11:53:42 +02:00 (CEST) Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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