Global Variome shared LOVD

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

Phenotype #0000232726 Individual ID 00306899 Associated disease TSC1 Diagnosis/Initial Tuberous sclerosis Diagnosis/Definite TSC1 TSC/Features rhabdomyoma cardiac Phenotype details no seizures; no intellectual disability (-HP:0001249); no cognitive impairment (-HP:0100543); no global developmental delay (-HP:0001263) Inheritance Familial, autosomal dominant Age/Examination 03y (3 years) Age/Diagnosis 03y Age/Onset - Phenotype/Onset HP:0009729 Protein - Owner name Yohei Masunaga Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Yohei Masunaga Date created 2020-07-22 13:38:43 +02:00 (CEST) Date last edited 2026-06-26 13:57:45 +02:00 (CEST)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.