Global Variome shared LOVD

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Phenotype #0000362909 Individual ID 00478394 Associated disease NDD Diagnosis/Initial complex NDD Diagnosis/Definite DEE4 Phenotype details HP:0001249, HP:0002187, HP:0001251, HP:0001344, HP:0001250, HP:0001337, HP:0003763, HP:0007328, HP:0000252 Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Marketa Wayhelova Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Marketa Wayhelova Date created 2026-05-07 13:27:42 +02:00 (CEST) Date last edited 2026-05-08 09:01:11 +02:00 (CEST)

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