Global Variome shared LOVD

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

Phenotype #0000341703 Individual ID 00453058 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite KLEFS2 Phenotype details see paper; ... (very detailed phenotype descriptions) Inheritance Isolated (sporadic) Age/Examination 21y3m (21 years, 3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-08-15 19:46:57 +02:00 (CEST) Date last edited N/A

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