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 InternationalCreative Commons License
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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