Global Variome shared LOVD

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

Phenotype #0000244497 Individual ID 00326012 Associated disease EVC Phenotype details postaxial polydactyly, short limbs, short ribs, no oral frenulae, hypoplastic left ventricle, left ventricle outflow tract obstruction, ventricular septal defect, postaxial polydactyly, anteriorly placed anus, club feet, facial anomalies, syndactyly, coronal cleft in lumbar vertebrae, gallbladder hypoplasia, pyelectasia 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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