Global Variome shared LOVD

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Phenotype #0000203565 Individual ID 00265779 Associated disease MDDG Phenotype details 8y-frequent falls, involuntary movements, spastic limb paresis; 13y-lost ambulation; 25y-deteriorating speech; 32y-loss of speech, loss cognitive skills, ... Diagnosis/Initial alpha dystroglycanopathy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 46y (46 years) Age/Diagnosis - Age/Onset 08y Phenotype/Onset frequent falls Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-10-05 14:35:33 +02:00 (CEST) Date last edited N/A

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