Global Variome shared LOVD

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Phenotype #0000352758 Individual ID 00467548 Associated disease CHARGE Phenotype details see paper; ..., mild CHARGE syndrome, bilateral hearing impairment, unusually-shaped ears, no intellectual disability, patent ductus arteriosus; abnormal semicircular canals, presence of olfactory bulbs Diagnosis/Initial CHARGE syndrome Inheritance Isolated (sporadic) Diagnosis/Definite CHARGE Age/Examination 08y08m (8 years, 8 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Cleft - Eye/Orbital - Protein - Eye/Ball - Fistula - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-16 12:51:25 +02:00 (CEST) Date last edited N/A

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