Global Variome shared LOVD

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

Phenotype #0000054288 Individual ID 00074465 Associated disease EJM Phenotype details The clinical features of the epileptic syndrome are homogeneous in all 8 affected members of the family over four generations. . We assessed individuals I-01 and II-03 indirectly via individual II-04. The phenotype of individuals I-01 and II-03 seems to be compatible with JME. Individual IV-02 has EEG abnormalities (photosensitivity), but does not present clinical seizures. Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Bernt Popp Database submission license No license selected Created by Bernt Popp Date created 2016-07-03 13:24:21 +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.