Global Variome shared LOVD

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

Phenotype #0000267711 Individual ID 00372395 Associated disease STSL1 Phenotype details Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),Arthralgia(HP:0002829),Coronary artery atherosclerosis unknown(?HP:0001677),Abnormality of the liver(HP:0001392),Thrombocytopenia(HP:0001873),Splenomegaly(HP:0001744),Stomatocytosis unknown(?HP:0004446),Hepatic steatosis(HP:0001397),Vasculitis(HP:0002633), Recurrent fever(HP:0001954) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 05y? (approximately 5 years) Age/Diagnosis 24y11m Age/Onset 05y? Phenotype/Onset Chronic hemolytic anemia(HP:0004870) Protein - Owner name Wenjuan Qiu Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Wenjuan Qiu Date created 2021-05-07 10:32:08 +02:00 (CEST) Date last edited 2021-05-07 17:53:24 +02:00 (CEST)

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