Global Variome shared LOVD

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

Phenotype #0000267705 Individual ID 00372389 Associated disease STSL1 Phenotype details No Hypercholesterolemia(-HP:0003124), No Hyperapobetalipoproteinemia(-HP:0008158), Elevated circulating sitosterol concentration(HP:0033341),Arthralgia(HP:0002829),No Coronary artery atherosclerosis(-HP:0001677), No Abnormality of the liver(-HP:0001392),Chronic hemolytic anemia(HP:0004870),Thrombocytopenia(HP:0001873), No Splenomegaly(-HP:0001744),No Stomatocytosis(-HP:0004446) Recurrent fever(HP:0001954) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 04y10m (4 years, 10 months) Age/Diagnosis 06y08m Age/Onset >03y Phenotype/Onset Tuberous xanthoma(HP:0031290) 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 09:31:54 +02:00 (CEST) Date last edited 2021-05-07 17:50:36 +02:00 (CEST)

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