Global Variome shared LOVD

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Phenotype #0000351301 Individual ID 00465852 Associated disease ? Diagnosis/Initial chondrodysplasia, multiple dislocations Diagnosis/Definite - Phenotype details see paper; ..., intrauterine growth retadation; 4y-short stature (2 SD); normal bone age; joint dislocations genu recurvatum; hands normal; radiocubital synostosis, mild platyspondyly with anterior beaking, swedish key appearance, small epiphyses, club feet; ; microstomia, thin lips, blue sclerae; 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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