Global Variome shared LOVD

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Phenotype #0000351293 Individual ID 00319816 Associated disease EDS Inheritance Familial, autosomal recessive Diagnosis/Initial chondrodysplasia, multiple dislocations Age/Examination - Diagnosis/Definite - Age/Onset - Phenotype/Onset - Phenotype details see paper; ..., no intrauterine growth retadation; short stature (-2 SD); normal bone age; joint dislocations hips; hands thumbs adducti, long and tapering fingers; bilateral club foot, contractures, Swedish key appearance, wide metaphyses; large anterior fontanel; prominent forehead, blue sclerae, hypertelorism, downslanting palpebral fissures, depressed nasal bridge; intellectual disability 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 2025-06-07 14:08:08 +02:00 (CEST) Date last edited N/A

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