Global Variome shared LOVD

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Phenotype #0000351296 Individual ID 00465847 Associated disease ? Diagnosis/Initial Desbuquois dysplasia Diagnosis/Definite DBQD1 Phenotype details see paper; ..., terminated pregnancy; intrauterine growth retadation; short stature; normal bone age; joint dislocations hips, elbows; hands club hands, supernumerary phalanx; Swedish key appearance, club feet; ; ; facial features 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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