Global Variome shared LOVD

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Phenotype #0000115998 Individual ID 00143246 Associated disease TSC Diagnosis/Initial tuberous sclerosis TSC/Features nodules;rhabdomyoma cardiac;cysts renal Diagnosis/Definite TSC-2 Inheritance Isolated (sporadic) Phenotype details bilateral SEN and multiple cardiac rhabdomyoma in patient, single dental pit (HP:0009722) and ambiguous pigmentory change in one parent; renal cysts 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 2020-06-19 09:19:04 +02:00 (CEST)

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