Phenotype #0000267711

Individual ID 00372395
Associated disease STSL1
Phenotype details Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),Arthralgia(HP:0002829),Coronary artery atherosclerosis unknown(?HP:0001677),Abnormality of the liver(HP:0001392),Thrombocytopenia(HP:0001873),Splenomegaly(HP:0001744),Stomatocytosis unknown(?HP:0004446),Hepatic steatosis(HP:0001397),Vasculitis(HP:0002633),
Recurrent fever(HP:0001954)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 05y? (approximately 5 years)
Age/Diagnosis 24y11m
Age/Onset 05y?
Phenotype/Onset Chronic hemolytic anemia(HP:0004870)
Protein -
Owner name Wenjuan Qiu
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Wenjuan Qiu
Date created 2021-05-07 10:32:08 +02:00 (CEST)
Date last edited 2021-05-07 17:53:24 +02:00 (CEST)

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