Global Variome shared LOVD

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Phenotype #0000351295 Individual ID 00465846 Associated disease ? Diagnosis/Initial Desbuquois dysplasia Diagnosis/Definite DBQD1 Phenotype details see paper; ..., 5h-deceased; intrauterine growth retadation; short stature; advanced bone age; joint dislocations hips, elbows, knees; hands short hands, supernumerary phalanx; Swedish key appearance, feet malposition; atrial septum defect, small thorax, lung hypoplasia; ; flat face Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - 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 2025-06-07 14:19:00 +02:00 (CEST) Date last edited N/A

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