Global Variome shared LOVD

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Phenotype #0000170557 Individual ID 00225442 Associated disease SMD Diagnosis/Initial spondylometaphyseal dysplasia Diagnosis/Definite - Phenotype details see paper; … Inheritance Familial, autosomal recessive Age/Examination 5y11m (5 years, 11 months) 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 2019-02-16 13:40:47 +01:00 (CET) Date last edited N/A

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