Global Variome shared LOVD

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Phenotype #0000169872 Individual ID 00224757 Associated disease TSC Diagnosis/Initial tuberous sclerosis TSC/Features rhabdomyoma cardiac Diagnosis/Definite TSC-2 Inheritance Unknown Phenotype details Index = prenatally detected cardiac rhabdomyoma has reduced in size since birth; normal brain MRI at one month old. Parent with TSC2 c.4149C>T has focal epilepsy, no skin signs and normal brain MRI. Age/Examination <00y01m (before 1 month) Age/Diagnosis 00y01m Age/Onset <00y01m Phenotype/Onset cardiac rhabdomyoma (HP:0009729) 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 2020-08-18 15:29:16 +02:00 (CEST)

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