Global Variome shared LOVD

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Phenotype #0000332760 Individual ID 00443419 Associated disease ? Diagnosis/Initial spinal muscular atrophy, lower extremity-predominant Diagnosis/Definite SMALED2A Phenotype details gait abnormality, club feet, pes planus, hip dysplasia, upper limbs weakness, short stature, lower motor neuron deterioration symptoms Inheritance Familial, autosomal dominant Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset 4y Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-26 13:31:49 +01:00 (CET) Date last edited N/A

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