Global Variome shared LOVD

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Phenotype #0000267344 Individual ID 00372006 Associated disease SCN Diagnosis/Initial syndromic neutropenia, Shwachman-Diamond–like features Diagnosis/Definite SCN8 Phenotype details see paper; ... Inheritance Isolated (sporadic) Age/Examination 18y (18 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 2021-05-04 20:20:47 +02:00 (CEST) Date last edited N/A

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