Global Variome shared LOVD

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Phenotype #0000124594 Individual ID 00152251 Associated disease LGMD Phenotype details severe; CPK 40x; mild intellectual disability (HP:0001256) IQ50; 17y-lost ability to walk Diagnosis/Initial dystrophy, muscular, limb-girdle (LGMD) Inheritance Isolated (sporadic) Diagnosis/Definite LGMD2K, ID Age/Examination - Age/Diagnosis - Age/Onset 2y Phenotype/Onset - Protein IHC abnormal DAG1 Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2006-05-14 11:23:08 +02:00 (CEST) Date last edited 2020-10-04 11:04:50 +02:00 (CEST)

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