Global Variome shared LOVD

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

Phenotype #0000327847 Individual ID 00437940 Associated disease TSC Diagnosis/Initial tuberous sclerosis TSC/Features angiofibromas facial;astrocytoma;dysplasias cortical;hamartomas retinal Diagnosis/Definite TSC-2 Inheritance Unknown Phenotype details Patient has low-grade fatty liver disease; single retinal hamartoma Age/Examination 32y (32 years) Age/Diagnosis 32y 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 2023-10-17 15:05:54 +02:00 (CEST) Date last edited N/A

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