Global Variome shared LOVD

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Phenotype #0000292506 Individual ID 00399395 Associated disease MDC Phenotype details see paper; ..., congenital muscular dystrophy; 22m-no clinical seizures, EEG abnormal; severe hypotonia, areflexia, global developmental delays; nystagmus; elevated CK, normal serum O-glycan analysis Diagnosis/Initial muscular dystrophy Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 01y10m (1 year, 10 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 2022-01-20 14:28:53 +01:00 (CET) Date last edited 2022-01-20 15:46:19 +01:00 (CET)

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