Global Variome shared LOVD

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Phenotype #0000203719 Individual ID 00265941 Associated disease MFS Phenotype details index = Lisch nodules (HP:0009737);pneumothorax (HP:0002107);chronic constipation (HP:0012450);scoliosis (HP:0002650);malar hypoplasia (HP:0000272);retrognathia (HP:0000278);micrognathia (HP:0000347);tall forehead (HP:0000348);enophthalmos (HP:0000490)kyphosis. Diagnosis/Initial Marfan syndrome Inheritance Unknown Diagnosis/Definite TSC-1 Age/Examination - Age/Diagnosis 18y Age/Onset - Phenotype/Onset - Protein - Owner name Rosemary Ekong Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Rosemary Ekong Date created 2019-10-11 19:09:07 +02:00 (CEST) Date last edited N/A

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