Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000210921 Individual ID 00276332 Associated disease ODCD Diagnosis/Initial osteochondrodysplasia Diagnosis/Definite STLS Phenotype details short stature, scoliosis, carpal coalition, dislocated hips, no radial head location, no pes caveslmild midface hypoplasia with slightly anteverted nares, bilateral fifth finger clinodactyly, decreased adduction of the hips bilaterally, pes planus, lumbar lordosis, mild thoracic scoliosis, bilateral capitate, hamate bone coalitions, no intellectual disability Inheritance Familial, autosomal recessive Age/Examination 12y (12 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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