Global Variome shared LOVD

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Phenotype #0000342145 Individual ID 00445386 Associated disease TSC2 Diagnosis/Initial definite tuberous sclerosis TSC/Features angiofibromas;angiomyolipomas;cortical tubers;epilepsy;hamartomas retinal;macules hypomelanotic;nodules;rhabdomyoma cardiac;spasm Diagnosis/Definite TSC-2 Phenotype details hypotonia (HP:0001252), short stature (HP:0004322), dysmorphic features; moderate intellectual disability (HP:0002342) Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Rosemary Ekong Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Rosemary Ekong Date created 2024-09-06 00:39:35 +02:00 (CEST) Date last edited 2026-06-26 13:57:45 +02:00 (CEST)

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