Global Variome shared LOVD

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Phenotype #0000351257 Individual ID 00318159 Associated disease EDS Inheritance Familial, autosomal recessive Diagnosis/Initial spondyloepimetaphyseal dysplasia Age/Examination - Diagnosis/Definite EDSSPD2 Age/Onset - Phenotype/Onset - Phenotype details severe skin and joint laxity, history of multiple fractures, blue sclera with no facial dysmorphism, severe khyphosco- liosis, marked acetabular dysplasia, bilateral radial head dislocation, developmental delay and severe short stature Hearing/Loss - Protein - CK-level - EMG - Muscle/Biopsy - Age/Diagnosis - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-06-05 19:58:31 +02:00 (CEST) Date last edited N/A

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