Global Variome shared LOVD

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Phenotype #0000041344 Individual ID 00054665 Associated disease MDC Phenotype details gross motor delay, walked age 6y with support, moderate cognitive delay, leukodystrophy; CPK elevated (5000-7000); IHC alphaDG; histology dystrophic Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset 1y Phenotype/Onset - Protein - Owner name Sandra Cooper Database submission license No license selected Created by Sandra Cooper Date created 2015-11-08 12:06:11 +01:00 (CET) Date last edited N/A

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