Phenotype #0000267426

Individual ID 00372105
Associated disease STSL1
Phenotype details Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341),
Hyperapobetalipoproteinemia(HP:0008158),Arthralgia(HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Abnormality of the liver(-HP:0001392),No Splenomegaly(-HP:0001744),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia (-HP:0001873),No Stomatocytosis(-HP:0004446)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 09y10m (9 years, 10 months)
Age/Diagnosis 10y01m
Age/Onset 06y?
Phenotype/Onset Tuberous xanthoma(HP:0031290)
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 09:05:24 +02:00 (CEST)
Date last edited 2021-05-07 17:49:13 +02:00 (CEST)

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