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 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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