Global Variome shared LOVD

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Phenotype #0000332804 Individual ID 00443471 Associated disease NDD Diagnosis/Initial neuro-ectodermal syndrome Diagnosis/Definite JABELS Phenotype details see paper; ... Inheritance Familial, autosomal recessive Age/Examination 19y (19 years) 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 2023-11-27 16:22:12 +01:00 (CET) Date last edited N/A

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