Global Variome shared LOVD

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Phenotype #0000267364 Individual ID 00372026 Associated disease SCN Diagnosis/Initial severe congenital neutropenia Diagnosis/Definite SCN8 Phenotype details see paper; ..., 144 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; maturation arrest on bone marrow smear (before G-CSF therapy); G-CSF therapy; neurodevelopmental delay, dysmorphy; no exocrine pancreatic insufficiency; short stature (final height1.48 m), obesity Inheritance Unknown Age/Examination 32y (32 years) Age/Diagnosis 2m27d 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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