Global Variome shared LOVD

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Phenotype #0000341634 Individual ID 00452990 Associated disease TSC Diagnosis/Initial patent ductus arteriosus with tuberous sclerosis TSC/Features angiofibromas facial;fibromas ungual;fibromas intraoral;Shagreen patch Diagnosis/Definite TSC-2 Inheritance Unknown Phenotype details Congenital heart disease with patent ductus arteriosus; Nodules in liver, lungs, duodenal region, and both kidneys; Pulmonary hypertension; Emphysema in both lungs with pulmonary bullae; Normal development Age/Examination 33y (33 years) Age/Diagnosis 33y Age/Onset - Phenotype/Onset - Seizures - Intellectual_dis - Protein - Cognitive/Impairment - Development - Owner name Rosemary Ekong Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Rosemary Ekong Date created 2024-08-09 16:44:30 +02:00 (CEST) Date last edited N/A

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