Phenotype #0000232931

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307126
Associated disease	EVC
Phenotype details	see paper; ..., height 124.5 cm; short limbs, polydactyly hands/feet, no syndactyly, brachydactyly; nail dysplasia; genu valgum; no cardiac malformation; hypodontia/dysplastic teeth
Diagnosis/Initial	Ellis-van Creveld syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	EVC
Age/Examination	18y (18 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-08-03 12:47:58 +02:00 (CEST)
Date last edited	N/A

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