Global Variome shared LOVD

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Phenotype #0000244531 Individual ID 00326046 Associated disease EVC Phenotype details postaxial polydactyly, no cardiac anomalies, no narrow chest, short stature, distal limb shortening, dysplastic nails, no excess frenula, hypodontia, tooth abnormalities, syndactyly, no hair changes, genu valgum, abnormal clavicles Diagnosis/Initial Ellis-van Creveld syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite EVC2 Age/Examination 06y (6 years) 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 20:40:23 +01:00 (CET) Date last edited N/A

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