Phenotype #0000244506

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00326021
Associated disease	EVC
Phenotype details	short stature, postaxial polydactyly, short ribs, hypoplastic nails, multiple oral frenula, irregular alveolar ridge, premature eruption of teeth, partial atrioventicular canal, aortic coarctation,
Diagnosis/Initial	Ellis van Creveld syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	EVC
Age/Examination	3m
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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