Global Variome shared LOVD

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Phenotype #0000213822 Individual ID 00279241 Associated disease TSC Diagnosis/Initial tuberous sclerosis TSC/Features - Diagnosis/Definite TSC-2 Inheritance Isolated (sporadic) Phenotype details infantile spasms; cortical tubers; nodules, no facial angiomyolipoma, 12 HMs, epilepsy, mild autistic features, 1 cafÈ-au-lait patch, normal eye, renal & ECHO results, no delay in motor development 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 2014-07-01 04:20:58 +02:00 (CEST) Date last edited 2014-07-01 14:31:45 +02:00 (CEST)

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