Global Variome shared LOVD

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Phenotype #0000041348 Individual ID 00054669 Associated disease MDC Phenotype details infantile hypotonia, gross motor delay, walked age 4y, non-ambulant from 11y, facial weakness, ophthalmoplegia, contractures, scoliosis; CPK normal; IHC alphaDG; histology non-specific Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset - 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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