Global Variome shared LOVD

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Phenotype #0000025776 Individual ID 00029803 Associated disease AOS Phenotype details see paper; aplasia cutis congenita, bony defect/abnormal fontanelle, terminal transverse limb defects, syndactyly Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-02-08 21:16:28 +01:00 (CET) Date last edited N/A

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