Global Variome shared LOVD

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

Phenotype #0000243876 Individual ID 00325389 Associated disease ? Diagnosis/Initial developmental epileptic encephalopathy Diagnosis/Definite - Phenotype details 10m-onset seizures; multiple focal seizures, general, nonconvulsive status epilepticus; attention deficit. cognition delay Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 2y Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-01-02 12:18:38 +01:00 (CET) Date last edited N/A

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