Global Variome shared LOVD

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

Phenotype #0000243888 Individual ID 00325401 Associated disease ? Diagnosis/Initial regressive encephalopathy Diagnosis/Definite - Phenotype details 11m-onset seizures; general tonic seizures; profound intellectual disability Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis 14m 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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