Global Variome shared LOVD

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Phenotype #0000169843 Individual ID 00224728 Associated disease TSC Diagnosis/Initial tuberous sclerosis TSC/Features cortical tubers;epilepsy Diagnosis/Definite TSC-2 Inheritance Unknown Phenotype details One family member with both variants has a prenatally detected cardiac rhabdomyoma, then a hypomelanotic macule and West Syndrome/Epileptic spasm (HP:0011097) noted at 6 months. Second family member with only TSC2 c.5068G>T and NOT TSC1 c.89A>G also has a prenatally detected cardiac rhabdomyoma and cortical tubers, postnatally detected cortical tubers and subependymal nodules, then West syndrome/Epileptic spasm (HP:0011097). Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Seizures - Intellectual_dis - 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 2015-11-28 02:43:36 +01:00 (CET) Date last edited 2023-05-22 18:29:02 +02:00 (CEST)

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