Phenotype #0000267714

Individual ID 00372399
Associated disease STSL1
Phenotype details Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),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),
No Stomatocytosis(HP:0004446)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 12y01m (12 years, 1 month)
Age/Diagnosis 12y01m
Age/Onset 04y?
Phenotype/Onset Arthralgia(HP:0002829)
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 16:01:59 +02:00 (CEST)
Date last edited 2021-05-07 17:55:39 +02:00 (CEST)

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