Global Variome shared LOVD

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

Phenotype #0000257777 Individual ID 00362364 Associated disease DBA Diagnosis/Initial Diamond-Blackfan anemia Diagnosis/Definite DBA6 Phenotype details small jaw, cleft palate, triphlangeal thumb, hip dysplasia, rib anomalies; responsive to steroid therapy Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis 10m 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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