Phenotype #0000230403

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00303326
Associated disease	LDS
Phenotype details	Aortic root dilatation (HP:0002616), Mitral valve prolapse (HP: 0001634), Scoliosis (HP:0002650)
Diagnosis/Initial	Loeys-Dietz syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	LDS1
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Katta M Girisha
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-04 16:44:02 +02:00 (CEST)
Date last edited	N/A

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