Phenotype #0000244496

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00326011
Associated disease	EVC
Phenotype details	short stature, postaxial polydactyly, short ribs, hypodontia, abnormally shaped teeth, multiple oral frenula, narrow palate, atrial septal defect, club foot, frequent respiratory infections, facial anomalies
Diagnosis/Initial	Ellis van Creveld syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	EVC
Age/Examination	8y (8 years)
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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