Global Variome shared LOVD

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

Phenotype #0000267717 Individual ID 00372402 Associated disease STSL Diagnosis/Initial - Diagnosis/Definite - Phenotype details Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia unknown(?HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),Chronic hemolytic anemia(HP:0004870),No Thrombocytopenia(-HP:0001873),No Splenomegaly(-HP:0001744), Stomatocytosis unknown(?HP:0004446) Inheritance Familial, autosomal recessive Age/Examination 01y10m (1 year, 10 months) Age/Diagnosis 01y10m Age/Onset 00y08m? Phenotype/Onset Tuberous xanthoma(HP:0031290) Owner name Wenjuan Qiu Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Wenjuan Qiu Date created 2021-05-08 07:48:01 +02:00 (CEST) Date last edited 2021-05-08 08:57:26 +02:00 (CEST)

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