Phenotype #0000297492

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00404934
Associated disease	EDSCL1
Diagnosis/Initial	cEDS
Diagnosis/Definite	cEDS
Phenotype details	Hyperextensible skin HP:0000974, Atrophic scars HP:0001075, Fragile skin HP:0001030, Joint hypermobility HP:0001382
Inheritance	Familial, autosomal dominant
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	01y
Phenotype/Onset	-
Owner name	Sonja Strang-Karlsson
Database submission license	No license selected
Created by	Sonja Strang-Karlsson
Date created	2022-03-10 21:26:05 +01:00 (CET)
Date last edited	2022-03-17 12:16:03 +01:00 (CET)

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