Phenotype #0000244507

Individual ID 00326022
Associated disease EVC
Phenotype details short stature, postaxial polydactyly, hypoplastic nails, enamel hypoplasia, hypodontia, abnormally shaped teeth, delayed eruption of teeth, common atrium, tricuspid and mitral valve anomalies, patent ductus arteriosus, genu valgum
Diagnosis/Initial Ellis van Creveld syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite EVC
Age/Examination 19y (19 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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