Global Variome shared LOVD

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

Phenotype #0000186947 Individual ID 00247792 Associated disease TSC Diagnosis/Initial symptoms tuberous sclerosis TSC/Features astrocytoma;autism;cortical tubers;macules hypomelanotic;nodules;spasm Diagnosis/Definite TSC-2 Inheritance Unknown Phenotype details unilateral retinal astrocytic hamartoma (HP:0012778); delayed speech/language Age/Examination 00y06m (6 months) Age/Diagnosis 00y06m Age/Onset 00y06m Phenotype/Onset - Seizures - Intellectual_dis - Protein - Cognitive/Impairment - Development speech/language Owner name Rosemary Ekong Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Rosemary Ekong Date created 2019-07-18 03:06:32 +02:00 (CEST) Date last edited 2020-06-19 09:26:39 +02:00 (CEST)

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