Global Variome shared LOVD

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Phenotype #0000351306 Individual ID 00465857 Associated disease ? Diagnosis/Initial Desbuquois dysplasia Diagnosis/Definite - Phenotype details see paper; ..., intrauterine growth retadation; 12y-short stature (-4 SD); advanced bone age; joint dislocations knees, hips, radial heads; hands normal hands; limitation of elbow's extension, scoliosis, progressive cervical anomalies; ; no facial features; no intellectual disability 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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