Phenotype #0000174830

Individual ID 00234419
Associated disease MATINS;MHA;BDPLT6
Inheritance Familial, autosomal dominant
Diagnosis/Initial macrothrombocytopenia
Age/Examination 52y (52 years)
Diagnosis/Definite MATINS
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details platelet count 30x10*9/L, giant platelets (HP:0001902), leukocyte inclusions (HP:0040235), normal bleeding time (-HP:0003010), no bleeding diathesis (-HP:0001892), no proteinuria (-HP:0000093), no renal failure (-HP:0000083), bilateral sensorineural hearing loss (HP:0008619), no cataract (-HP:0000518)
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-05-17 11:03:39 +02:00 (CEST)
Date last edited N/A

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