Phenotype #0000059624

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00079988
Associated disease	ACRDYS1
Phenotype details	advanced bone age, caeliac disease, glucose intolerance with insulin resistance, severe peripheral dysostosis
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	08y
Age/Onset	-
Phenotype/Onset	fmelli
Growth	-
Protein	-
Owner name	Francesca Marta Elli
Database submission license	No license selected
Created by	Francesca Marta Elli
Date created	2016-08-31 08:46:55 +02:00 (CEST)
Date last edited	2016-08-31 08:59:19 +02:00 (CEST)

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