Global Variome shared LOVD

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

Phenotype #0000203725 Individual ID 00265945 Associated disease TSC Diagnosis/Initial tuberous sclerosis TSC/Features rhabdomyoma cardiac;epilepsy;macules hypomelanotic;cortical tubers;nodules Diagnosis/Definite TSC-2 Inheritance Familial, autosomal dominant Phenotype details index = supraventricular tachycardia (HP:0004755); younger brother = cardiac murmurs (HP:0030148); 2 cardiac rhabdomyomas (HP:0009729) at 2m; 2 hypomelanotic macules (HP:0009719); cortical tubers (HP:0009717); nodules (HP:0009716); father = 1 hypomelanotic macules (HP:0009719);cortical dysplasias (HP:0002539); elder brother of paternal grandfather = angiofibromas (HP:0010615); sister of paternal grandfather = epilepsy (HP:0001250) Age/Examination - Age/Diagnosis 5y Age/Onset 6m 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 2019-10-11 19:09:07 +02:00 (CEST) Date last edited N/A

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