Global Variome shared LOVD

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Phenotype #0000267713 Individual ID 00372398 Associated disease STSL1 Phenotype details No Hypercholesterolemia(-HP:0003124),No Hyperapobetalipoproteinemia(-HP:0008158),Elevated circulating sitosterol concentration unknown(?HP:0033341),No Arthralgia(-HP:0002829),Coronary artery atherosclerosis(HP:0001677),No Abnormality of the liver(-HP:0001392),Chronic hemolytic anemia(HP:0004870),Splenomegaly(HP:0001744),Stomatocytosis(HP:0004446),Abnormal bleeding(HP:0001892),Membranous nephropathy(HP:0012578),Xanthelasma(HP:0001114),Polyclonal elevation of circulating IgG(HP:0032288) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 04y? (approximately 4 years) Age/Diagnosis 63y10m Age/Onset 04y? Phenotype/Onset Thrombocytopenia(HP:0001873) 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 15:32:30 +02:00 (CEST) Date last edited 2021-05-07 17:54:39 +02:00 (CEST)

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