Global Variome shared LOVD

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

Phenotype #0000244498 Individual ID 00326013 Associated disease EVC Phenotype details postaxial polydactyly, short limbs, hypoplastic left heart with mitral stenosis, aortic valve atresia, left ventricular and aortic hypoplasia, micrognathia, facial anomalies, syndactyly Diagnosis/Initial Ellis van Creveld syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite EVC Age/Examination <0d 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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