Global Variome shared LOVD

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Phenotype #0000302364 Individual ID 00410259 Associated disease MDDGA3;MEB;WWS Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination 12y (12 years) Diagnosis/Definite dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A3 Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details creatine kinase units/l (normal values in the range of 24-240): 2365; biopsy: not done Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-23 11:57:25 +02:00 (CEST) Date last edited 2022-05-23 14:12:58 +02:00 (CEST)

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