Global Variome shared LOVD

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Phenotype #0000267367 Individual ID 00372029 Associated disease SCN Diagnosis/Initial severe congenital neutropenia Diagnosis/Definite SCN8 Phenotype details see paper; ..., 92 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, extreme delayed speech; exocrine pancreatic insufficiency (lipomatosis); intra-uterine growth retardation, short stature (final height 1.53 m), bone dysplasia Inheritance Isolated (sporadic) Age/Examination 25y7m (25 years, 7 months) Age/Diagnosis 1m 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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