Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000168913 Individual ID 00223799 Associated disease TSC Diagnosis/Initial definite tuberous sclerosis TSC/Features angiofibromas facial;cortical tubers;epilepsy;fibromas ungual;nodules;Shagreen patch Diagnosis/Definite TSC-2 Inheritance Familial, autosomal dominant Phenotype details Younger sibling has mild intellectual disability, epilepsy, cortical tubers and subependymal nodules Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Seizures seizures Intellectual_dis mild 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 2011-08-01 16:27:16 +02:00 (CEST) Date last edited 2022-06-29 22:12:49 +02:00 (CEST)

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