Global Variome shared LOVD

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Phenotype #0000215647 Individual ID 00281066 Associated disease TSC Diagnosis/Initial definite tuberous sclerosis TSC/Features - Diagnosis/Definite TSC-2 Inheritance Isolated (sporadic) Phenotype details macules hypomelanotic; multiple cortical tubers; multiple nodules; chronic seizures + infantile spasms, moderate autism (developmental delay), rhabdomyoma cardiac; multiple renal angiomyolipoma; cysts renal 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 2016-03-04 16:09:15 +01:00 (CET) Date last edited 2016-03-10 16:06:36 +01:00 (CET)

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