Global Variome shared LOVD

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

Phenotype #0000244494 Individual ID 00326009 Associated disease EVC Phenotype details postaxial polydactyly, short limbs, short ribs, pulmonary hypoplasia, atrial septal defect 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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