Global Variome shared LOVD

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Phenotype #0000041364 Individual ID 00054685 Associated disease MDC Phenotype details gross motor delay, walked age 2.5y, proximal weakness, choreiform movements, moderate intellectual disability, MRI - T2 hyperintensities; CPK elevated (600-3100); histology non-specific Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 8y (8 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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