Global Variome shared LOVD

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Phenotype #0000307085 Individual ID 00415287 Associated disease - Phenotype details OMIM: 156500; short stature, coxa vara, lower tibial bowing, and cupping metaphyseal at proximal phalanges Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite Metaphyseal Chondrodysplasia, Schmid Type Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-08-10 20:39:58 +02:00 (CEST) Date last edited N/A

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