Global Variome shared LOVD

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

Phenotype #0000346472 Individual ID 00458022 Associated disease SNIBCPS Diagnosis/Initial probable psychogenic disease Diagnosis/Definite SNIBCPS Phenotype details intellectual disability (HP:0001249), epilepsy (HP:0001250), ataxia (HP:0001251), unstable gait (HP:0002317), abnormal EEG (HP:0002353), Situs Inversus Totalis (HP:0030853） Inheritance Unknown Age/Examination 14y (14 years) Age/Diagnosis 14y Age/Onset 11y Phenotype/Onset intellectual disability (HP:0001249), epilepsy（HP:0001250), ataxia (HP:0001251） Owner name Xiaoguang Lei Database submission license No license selected Created by Xiaoguang Lei Date created 2024-11-25 16:49:24 +01:00 (CET) Date last edited 2024-12-03 08:50:54 +01:00 (CET)

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