Global Variome shared LOVD

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Phenotype #0000351300 Individual ID 00465851 Associated disease ? Diagnosis/Initial chondrodysplasia, multiple dislocations Diagnosis/Definite SEMDJL1 Phenotype details see paper; ..., no intrauterine growth retadation; 15y-short stature (-3.5 SD); ; joint dislocations elbows, hips; hands hypermobility of fingers; progressive scoliosis requiring surgery, dysplasia of femoral heads and acetabulae; learning difficulties; dolicocephaly, shallow orbits, narrow palate, pectus carinatum; 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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