Global Variome shared LOVD

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

Phenotype #0000342145 Individual ID 00445386 Associated disease TSC2 Diagnosis/Initial definite tuberous sclerosis TSC/Features angiofibromas;angiomyolipomas;cortical tubers;epilepsy;hamartomas retinal;macules hypomelanotic;nodules;rhabdomyoma cardiac;spasm Diagnosis/Definite TSC-2 Inheritance Unknown Phenotype details Patient also has Hypotonia (HP:0001252), Short stature (HP:0004322), and Dysmorphic features Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Seizures - Intellectual_dis moderate;severe Protein - Cognitive/Impairment - Hypertension - Development - Owner name Rosemary Ekong Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Rosemary Ekong Date created 2024-09-06 00:39:35 +02:00 (CEST) Date last edited N/A

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