Global Variome shared LOVD

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Phenotype #0000116002 Individual ID 00143250 Associated disease TSC Diagnosis/Initial tuberous sclerosis Diagnosis/Definite TSC2;NF1 TSC/Features facial angiofibromas;hypomelanotic macules;hamartomas retinal Phenotype details neurofibromatosis (NF-1, HP:0001067) Inheritance Isolated (sporadic) 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 16:14:47 +02:00 (CEST)

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