Phenotype #0000267424

Individual ID 00372103
Associated disease STSL1
Phenotype details Hypercholesterolemia(HP:0003124),Elevated circulating sitosterol concentration(HP:0033341),Hyperapobetalipoproteinemia(HP:0008158),Chronic hemolytic anemia(HP:0004870),Stomatocytosis(HP:0004446),No Arthralgia(-HP:0002829),No Coronary artery atherosclerosis(-HP:0001677),No Splenomegaly(-HP:0001744),No Abnormality of the liver(-HP:0001392),No Thrombocytopenia(-HP:0001873)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y08m (8 months)
Age/Diagnosis 03y01m
Age/Onset 00y
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 08:19:14 +02:00 (CEST)
Date last edited 2021-05-07 17:48:58 +02:00 (CEST)

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