Global Variome shared LOVD

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

Phenotype #0000169956 Individual ID 00224841 Associated disease TSC Diagnosis/Initial tuberous sclerosis TSC/Features - Diagnosis/Definite TSC-2 Inheritance Familial, autosomal dominant Phenotype details recurrent seizures; isolated focal cortical dysplasia (FCD) type IIb; dental enamel pits; 2 hypomelanotic macules; ubiquitous disseminated confetti skin lesions Age/Examination - Age/Diagnosis - 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 2017-08-02 17:05:51 +02:00 (CEST) Date last edited 2017-08-02 17:09:47 +02:00 (CEST)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.