Global Variome shared LOVD

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Phenotype #0000124599 Individual ID 00152256 Associated disease MDC Phenotype details Cerebellar hypoplasia and dysplasia; CPK 15x; able to sit Diagnosis/Initial dystrophy, muscular, congenital; mental retardation Diagnosis/Definite MDDGB-1 Inheritance Familial Age/Examination - Age/Diagnosis 18y Age/Onset - Phenotype/Onset - Protein POMT activity extremely low; 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 2006-05-14 23:55:00 +02:00 (CEST) Date last edited 2012-03-09 19:03:40 +01:00 (CET)

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