Phenotype #0000244509

Individual ID 00326024
Associated disease EVC
Phenotype details short stature, postaxial polydactyly, short ribs, nail hypoplasia, complete atrioventricular canal, small ventricular septal defect component left superior vena cava drains into left atrium by unroofed coronary sinus, Dandy-Walker malformation, epispadias, hypotonia
Diagnosis/Initial Ellis van Creveld syndrome
Inheritance Familial, autosomal recessive
Diagnosis/Definite EVC
Age/Examination 4m
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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