Global Variome shared LOVD

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Phenotype #0000325324 Individual ID 00435086 Associated disease ? Diagnosis/Initial cranioskeletal malformation syndrome Diagnosis/Definite AFDCIN Phenotype details see paper; ..., bilateral choanal atresia, upper and lower eyelid clefts, microcephaly; normal limbs; 6y-normal development; patent ductus arteriosus; father down-slanting palpebral fissures, mild malar hypoplasia Inheritance Unknown Age/Examination 06y (6 years) 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 19:30:32 +02:00 (CEST)

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