Global Variome shared LOVD

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Phenotype #0000125533 Individual ID 00152571 Associated disease MDC Phenotype details 3y-CK 948 I/l; sat without support, esotropia, cataract, myopia Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 07y07m (7 years, 7 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-02-03 20:29:40 +01:00 (CET) Date last edited N/A

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