Global Variome shared LOVD

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Phenotype #0000267361 Individual ID 00372023 Associated disease SCN Diagnosis/Initial severe congenital neutropenia Diagnosis/Definite SCN8 Phenotype details see paper; ..., 960 ANCs (per ul) before G-CSF therapy; severe bacterial infections; stomatitis gingivitis; intermittent maturation arrest on bone marrow smear (before G-CSF therapy) ; G-CSF therapy; learning difficulties, attending special school; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms Inheritance Isolated (sporadic) Age/Examination 46y (46 years) Age/Diagnosis 2m24d 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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