Global Variome shared LOVD

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Phenotype #0000267708 Individual ID 00372390 Associated disease STSL1 Phenotype details Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341),Hyperapobetalipoproteinemia unknown(?HP:0008158),Xanthelasma(HP:0001114),Thrombocytopenia(HP:0001873),Arthralgia(HP:0002829),Splenomegaly(HP:0001744),Coronary artery atherosclerosis(HP:0001677),Recurrent fever(HP:0001954),No Abnormality of the liver(-HP:0001392),Stomatocytosis unknown(?HP:0004446) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 08y? (approximately 8 years) Age/Diagnosis 56y07m Age/Onset 08y? 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 09:47:14 +02:00 (CEST) Date last edited 2021-05-07 17:51:48 +02:00 (CEST)

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