Global Variome shared LOVD

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

Phenotype #0000155293 Individual ID 00207516 Associated disease EIEE Phenotype details Epilepsy, focal seizures with hypertonicity which evolved during childhood to include atypical absence seizures, tonic seizures and atonic (drop) attacks. Choreoathetoid movements. Blepharitis. Vision and hearing are normal but speech is absent. Global DD. No congenital malformations such as cleft palate or congenital heart disease. Diagnosis/Initial - Inheritance Familial, X-linked Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y04m Phenotype/Onset - Protein - Intellectual_dis - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2018-11-23 17:47:02 +01:00 (CET) Date last edited N/A

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