Global Variome shared LOVD

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Phenotype #0000244509 Individual ID 00326024 Associated disease EVC Phenotype details short stature, postaxial polydactyly, short ribs, nail hypoplasia, complete atrioventricular canal, small ventricular septal defect component left superior vena cava drains into left atrium by unroofed coronary sinus, Dandy-Walker malformation, epispadias, hypotonia Diagnosis/Initial Ellis van Creveld syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite EVC Age/Examination 4m 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 2021-01-06 18:59:52 +01:00 (CET) Date last edited N/A

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