Phenotype #0000267421

Individual ID 00372100
Associated disease STSL1
Phenotype details Hypercholesterolemia(HP:0003124),
Hyperapobetalipoproteine(HP:0008158),
Elevated circulating sitosterol concentration(HP:0033341),
Chronic hemolytic anemia(HP:0004870),
Thrombocytopenia (HP:0001873),
Splenomegaly(HP:0001744),
Stomatocytosis(HP:0004446),
Tendon xanthomatosis(HP:0010874),
No Abnormality of the liver(-HP:0001392),
No Coronary artery atherosclerosis(-HP:0001677),
No Arthralgia(-HP:0002829)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 06y06m (6 years, 6 months)
Age/Diagnosis 11y02m
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 07:45:12 +02:00 (CEST)
Date last edited 2021-05-07 17:48:48 +02:00 (CEST)

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