Global Variome shared LOVD

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Phenotype #0000174838 Individual ID 00234426 Associated disease MATINS;MHA;BDPLT6 Inheritance Familial, autosomal dominant Diagnosis/Initial macrothrombocytopenia Age/Examination 08y (8 years) Diagnosis/Definite MATINS Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details platelet count 123x10*9/L, giant platelets (HP:0001902), leukocyte inclusions (HP:0040235), increased bleeding time (HP:0003010), epistaxis, bleeding after surgery and loss milk tooth, no proteinuria (-HP:0000093), no renal failure (-HP:0000083), no sensorineural hearing loss (-HP:0000407), no cataract (-HP:0000518) Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-05-17 11:17:43 +02:00 (CEST) Date last edited N/A

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