Global Variome shared LOVD

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

Phenotype #0000328299 Individual ID 00438395 Associated disease epilepsy Phenotype details HP:0001250 seizures; HP:0000496 abnormality of eye movement; HP:0001281 tetany; HP:0001943 hypoglycemia; HP:0002151 increased serum lactate; HP:0007185 loss of consciousness Diagnosis/Initial epilepsy Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 83d Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-10-20 19:13:42 +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.