Global Variome shared LOVD

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

Phenotype #0000267719 Individual ID 00372404 Associated disease STSL Diagnosis/Initial - Diagnosis/Definite - Phenotype details Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(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),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia(-HP:0001873),No Splenomegaly(-HP:0001744), No Stomatocytosis(-HP:0004446) Inheritance Familial, autosomal recessive Age/Examination 06y (6 years) Age/Diagnosis 06y05m Age/Onset 02y? 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 08:14:33 +02:00 (CEST) Date last edited 2021-05-08 08:58:19 +02:00 (CEST)

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