Global Variome shared LOVD

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

Phenotype #0000027254 Individual ID 00033857 Associated disease DEE17;EIEE17 Phenotype details 4y-onset movement disorder; 10y-11y-onset epilepsy; structural changes brain, atrophy, thinned corpus callosum; severe developmental delay; affected speech Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 00y07m Phenotype/Onset - Protein - Owner name Hirotomo Saitsu Database submission license No license selected Created by Hirotomo Saitsu Date created 2015-03-07 05:00:16 +01:00 (CET) Date last edited 2023-10-19 15:23:28 +02:00 (CEST)

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