Phenotype #0000230384

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00303307
Associated disease	MFS
Phenotype details	Disproportionate tall stature (HP:0001519), Aortic root dilatation (HP:0002616), Ectopia lentis (HP:0001083), Myopia (HP:0000545), Mitral valve prolapse (HP: 0001634)
Diagnosis/Initial	Marfan syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	MFS
Age/Examination	10y (10 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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