Global Variome shared LOVD

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

Phenotype #0000061147 Individual ID 00081545 Associated disease EE Phenotype details see paper; ..., intellectual disability, epilepsy; two regression in adolescence, deceased (16y, 22y) presumed sudden unexpected death in epilepsy Diagnosis/Initial intellectual disability Inheritance Familial, X-linked dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Cheryl Shoubridge Database submission license Creative Commons Attribution 4.0 International Created by Cheryl Shoubridge Date created 2016-10-17 12:21:22 +02:00 (CEST) Date last edited 2022-01-05 16:53:23 +01:00 (CET)

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