Global Variome shared LOVD

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Phenotype #0000210920 Individual ID 00276331 Associated disease ODCD Diagnosis/Initial osteochondrodysplasia Diagnosis/Definite STLS Phenotype details short stature, scoliosis, carpal coalition, dislocated hips, radial head location, no pes caves;mild midface hypoplasia with slightly anteverted nares, bilateral fifth finger clinodactyly, decreased adduction of the hips bilaterally, pes planus; decreased elbow extension bilaterally, thoracic levoscoliosis, bilateral capitate, hamate bone coalitions, no intellectual disability Inheritance Familial, autosomal recessive Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-01-31 10:08:04 +01:00 (CET) Date last edited N/A

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