Global Variome shared LOVD

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Phenotype #0000254941 Individual ID 00359668 Associated disease MD Phenotype details see paper; ..., delayed speech, delayed language development, gait ataxia, global developmental delay, infantile-onset, microcephaly, motor delay, neurodevelopmental delay, poor speech, postnatal microcephaly, strabismus Diagnosis/Initial muscular dystrophy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 04y (4 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-03 17:23:00 +02:00 (CEST) Date last edited N/A

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