Phenotype #0000230405

Individual ID 00303328
Associated disease LDS
Phenotype details Aortic root dilatation (HP:0002616), Mitral valve prolapse (HP: 0001634), Cleft palate (HP:0000175)
Diagnosis/Initial Loeys-Dietz syndrome
Inheritance Familial, autosomal dominant
Diagnosis/Definite LDS2
Age/Examination 7m
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Katta M Girisha
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons 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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