Phenotype #0000267713

Individual ID 00372398
Associated disease STSL1
Phenotype details No Hypercholesterolemia(-HP:0003124),No Hyperapobetalipoproteinemia(-HP:0008158),Elevated circulating sitosterol concentration unknown(?HP:0033341),No Arthralgia(-HP:0002829),Coronary artery atherosclerosis(HP:0001677),No Abnormality of the liver(-HP:0001392),Chronic hemolytic anemia(HP:0004870),Splenomegaly(HP:0001744),Stomatocytosis(HP:0004446),Abnormal bleeding(HP:0001892),Membranous nephropathy(HP:0012578),Xanthelasma(HP:0001114),Polyclonal elevation of circulating IgG(HP:0032288)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 04y? (approximately 4 years)
Age/Diagnosis 63y10m
Age/Onset 04y?
Phenotype/Onset Thrombocytopenia(HP:0001873)
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 15:32:30 +02:00 (CEST)
Date last edited 2021-05-07 17:54:39 +02:00 (CEST)

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