Phenotype #0000267710

Individual ID 00372394
Associated disease STSL1
Phenotype details Hypercholesterolemia(HP:0003124),Hyperapobetalipoproteinemia(HP:0008158),Elevated circulating sitosterol concentration(HP:0033341),No Arthralgia(-HP:0002829),Coronary artery atherosclerosis unknown(?HP:0001677),No Abnormality of the liver(-HP:0001392),No Chronic hemolytic anemia(-HP:0004870),No Thrombocytopenia(-HP:0001873),No Splenomegaly(-HP:0001744),
No Stomatocytosis unknown(-HP:0004446)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 01y02m (1 year, 2 months)
Age/Diagnosis 01y02m
Age/Onset 00y11m
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 10:15:37 +02:00 (CEST)
Date last edited 2021-05-07 17:52:21 +02:00 (CEST)

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