Phenotype #0000106397

Individual ID	00133647
Associated disease	PVNH4
Phenotype details	PVNH myxomatous and prolapsed mitral valve with moderate regurgitation tricuspid aortic valve prolapse with mild regurgitation brachycephaly, telecanthus, epicanthal folds, periorbital fullness and infraorbital creases bilaterally and low-set, posteriorly rotated ears skin laxity Increased mobility across all joints brachydactyly with proximally placed thumbs, flat feet with sandal gap and medially deviated great toes tall vertebral bodies
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	04y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Elyssa Cannaerts
Database submission license	No license selected
Created by	Elyssa Cannaerts
Date created	2017-11-16 10:10:21 +01:00 (CET)
Date last edited	2017-11-16 11:53:00 +01:00 (CET)

Global Variome shared LOVD