Global Variome shared LOVD

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Phenotype #0000142691 Individual ID 00180298 Associated disease TSC Diagnosis/Initial TSC by chance Diagnosis/Definite TSC2 TSC/Features cortical tubers;hamartomas retinal Phenotype details 32yr old son has Cognitive impairment (HP:01005430) and neurobehavioural abnormalities from childhood Inheritance Unknown Age/Examination - Age/Diagnosis - 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 2018-09-03 17:30:43 +02:00 (CEST) Date last edited 2026-06-25 16:14:47 +02:00 (CEST)

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