Global Variome shared LOVD

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Phenotype #0000351309 Individual ID 00465860 Associated disease ? Diagnosis/Initial chondrodysplasia, multiple dislocations Diagnosis/Definite - Phenotype details see paper; ..., no intrauterine growth retadation; 3y-short stature (-3 SD); retarded bone age; joint dislocations hips; hands slender phalanges; kyphoscoliosis, hemivertebrae, sacrum anomaly, prominent heels, slender distal femur, sternal protrusion; tracheomalacia; flat nose, midface retrusion, thick lips; no intellectual disability Inheritance Isolated (sporadic) 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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