Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000267360 Individual ID 00372022 Associated disease SCN Diagnosis/Initial severe congenital neutropenia Diagnosis/Definite SCN8 Phenotype details see paper; ..., 435 ANCs (per ul) before G-CSF therapy; severe bacterial infections; no stomatitis gingivitis; intermittent maturation arrest on bone marrow smear (before G-CSF therapy) ; G-CSF therapy; no neurological symptoms; no exocrine pancreatic insufficiency; no extrahematopoietic symptoms Inheritance Familial, autosomal dominant Age/Examination 17y (17 years) Age/Diagnosis 4m6d 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.