Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000186945 Individual ID 00247791 Associated disease TSC Diagnosis/Initial symptoms tuberous sclerosis TSC/Features angiofibromas facial;angiomyolipomas;cortical tubers;macules hypomelanotic;nodules Diagnosis/Definite TSC-2 Inheritance Unknown Phenotype details multiple liver angiomyolipomas (AMLs); no developmental delay Age/Examination 16y (16 years) Age/Diagnosis 16y Age/Onset - Phenotype/Onset - Seizures no Intellectual_dis no Protein - Cognitive/Impairment - Development no Owner name Rosemary Ekong Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Rosemary Ekong Date created 2019-07-18 01:44:55 +02:00 (CEST) Date last edited 2020-06-19 09:25:51 +02:00 (CEST)

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