Global Variome shared LOVD

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

Phenotype #0000291086 Individual ID 00397958 Associated disease FANC Diagnosis/Initial Fanconi anemia Diagnosis/Definite 108 Phenotype details anemia, + diepoxybutane test, extremity anomalies, unilateral kidney agenesis, atrial septal defect, ventricular septal defect, hypothyroidism and cryptorchidism Inheritance Familial, autosomal recessive Age/Examination 5y (5 years) Age/Diagnosis - 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 2021-12-30 13:26:34 +01:00 (CET) Date last edited N/A

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