Global Variome shared LOVD

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

Phenotype #0000227877 Individual ID 00300570 Associated disease TSC Diagnosis/Initial tuberous sclerosis TSC/Features spasm;cortical tubers;nodules;retinal achromatic patch Diagnosis/Definite TSC-2 Inheritance Unknown Phenotype details anterior subcapsular cortical cataract at 5 months; bilateral multiple retinal achromic patches; amblyopia (HP:0000646); retinal astrocytic hamartoma (HP:0012778); 2y6m-onset seizures Age/Examination - Age/Diagnosis 2y6m Age/Onset - Phenotype/Onset - Seizures 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 2020-05-03 10:03:19 +02:00 (CEST) Date last edited N/A

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