Global Variome shared LOVD

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Phenotype #0000116005 Individual ID 00143253 Associated disease TSC Diagnosis/Initial tuberous sclerosis Diagnosis/Definite TSC2;PKD1 TSC/Features facial angiofibromas;cortical tubers;hypomelanotic macules;nodules;cysts renal Phenotype details speech delayed (HP:0000750), polycystic kidney disease (PKD-1, HP:0000113); seizures 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 2014-07-01 04:20:58 +02:00 (CEST) Date last edited 2026-06-25 17:03:43 +02:00 (CEST)

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