Phenotype #0000244402

Individual ID	00325915
Associated disease	EVC
Phenotype details	disproportionate short stature, acromesomelic limb shortening, short ribs, postaxial polydactyly hands, nail dysplasia, fusion hamate and capitate; oligodontia, dysplastic teeth, multiple oral frenulae; genu valgum (1/2)
Diagnosis/Initial	Ellis van Creveld syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	EVC
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-01-05 09:10:52 +01:00 (CET)
Date last edited	N/A

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Global Variome shared LOVD