Global Variome shared LOVD

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Phenotype #0000124681 Individual ID 00152338 Associated disease MDC Phenotype details contractures ankles, knees and elboes, no cardiac or respiratory involvement, microcephaly, MRI normal; CPK 6000; severe intellectual disability (HP:0010864); able to sit Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite - Inheritance Unknown Age/Examination - Age/Diagnosis 15y Age/Onset 0d Phenotype/Onset - Protein IHC reduced DAG1 Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2008-02-08 20:31:27 +01:00 (CET) Date last edited 2013-02-01 19:44:12 +01:00 (CET)

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