Phenotype #0000244515

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00326030
Associated disease	EVC
Phenotype details	bilateral postaxial hands and feet polydactyly, nail hypoplasia, thin dry hair, abnormally shaped teeth, multiple oral frenula, ventricular septal defect, aortic coarctation,
Diagnosis/Initial	Ellis van Creveld syndrome
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	11m
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission 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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