Global Variome shared LOVD

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

Phenotype #0000082311 Individual ID 00104379 Associated disease RSMD Phenotype details rigid spine syndrome; congenital muscle weakness, proximal, body size and weight below 3rd percentile, 2.5y when diagnosed Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 2y6m Phenotype/Onset - Protein - Owner name Wolfram Kress Database submission license No license selected Created by Wolfram Kress Date created 2011-05-02 16:38:34 +02:00 (CEST) Date last edited 2012-03-09 19:32:06 +01:00 (CET)

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