Global Variome shared LOVD

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Phenotype #0000325326 Individual ID 00435088 Associated disease ? Diagnosis/Initial mandibulofacial dysostosis Diagnosis/Definite AFDCIN Phenotype details see paper; ..., birth preterm, weight 1250 g; advanced parental age; down slanted palpebral fissures; lower eyelid coloboma; normal ears; normal hearing; ectropion, dacrostenosis; limbs normal Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-05-05 19:15:22 +02:00 (CEST) Date last edited 2023-05-05 19:41:13 +02:00 (CEST)

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