Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000174836 Individual ID 00234424 Associated disease MATINS;MHA;BDPLT6 Inheritance Familial, autosomal dominant Diagnosis/Initial macrothrombocytopenia Age/Examination 02y (2 years) Diagnosis/Definite MATINS Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details platelet count 96x10*9/L, giant platelets (HP:0001902), leukocyte inclusions (HP:0040235), no bleeding diathesis (-HP:0001892), no proteinuria (-HP:0000093), no renal failure (-HP:0000083), no sensorineural hearing loss (-HP:0000407) 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 11:13:28 +02:00 (CEST) Date last edited N/A

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