Global Variome shared LOVD

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

Phenotype #0000257811 Individual ID 00362398 Associated disease DBA Diagnosis/Initial Diamond-Blackfan anemia Diagnosis/Definite DBA7 Phenotype details hypoplastic thumb, flat thenar muscle; responsive/ stopped due to growth retardation; red blood cell transfusion Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis 2m15d Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-04-22 14:53:31 +02:00 (CEST) Date last edited N/A

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