Global Variome shared LOVD

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Phenotype #0000041371 Individual ID 00054692 Associated disease MDC Phenotype details gross motor delay, walked age 3.5y, hypermobility, distal laxity; CPK elevated (926-1310) Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal dominant Age/Examination 3y (3 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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