Global Variome shared LOVD

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Phenotype #0000123864 Individual ID 00151496 Associated disease MDC Phenotype details progressive muscle weakness, posterior fossa malformation with cysts, MRI brain atrophy, multiple contractures, severe respiratory insufficiency, death septic shock; CPK level 2800-4900; intellectual disability (HP:0001249) IQv <50; 10y-lost ambulation Diagnosis/Initial muscular dystrophy, congenital; mental retardation Diagnosis/Definite MDDGA-4 Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 0y Phenotype/Onset congenital hip dislocation, hypotonia, difficulty swallow/suction, delayed motor development Protein IHC LAMA2, DMD, SGC normal Owner name Rosário dos Santos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-02-23 18:21:02 +01:00 (CET) Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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