Global Variome shared LOVD

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Phenotype #0000326862 Individual ID 00436749 Associated disease DIH Diagnosis/Initial congenital diaphragmatic hernia Diagnosis/Definite - Phenotype details see paper; ..., alive; no diaphragm defect type; no body-wall defect; hypertelorism; no neurodevelopmental features Inheritance Familial, X-linked dominant Age/Examination - 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 2023-10-06 11:49:26 +02:00 (CEST) Date last edited N/A

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