Global Variome shared LOVD

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

Phenotype #0000327920 Individual ID 00438016 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details deceased; 4m-onset movement disorder; 3y-onset epilepsy; structural changes brain, thinned corpus callosum; hypotonia; severe developmental delay; no speech Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Harald Mikkers Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-08-14 14:11:00 +02:00 (CEST) Date last edited N/A

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