Phenotype #0000267420

Individual ID 00372099
Associated disease STSL1
Phenotype details Hypercholesterolemia(HP:0003124),
Hyperapobetalipoproteinemia(HP:0008158),
Elevated circulating sitosterol concentration unknown(?HP:0033341),
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),
Stomatocytosis unknown(?HP:0004446),
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 01y02m (1 year, 2 months)
Age/Diagnosis 01y06m
Age/Onset 00y08m
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 04:57:22 +02:00 (CEST)
Date last edited 2021-05-07 17:44:47 +02:00 (CEST)

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