Global Variome shared LOVD

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Phenotype #0000238237 Individual ID 00313913 Associated disease DA Phenotype details see paper; ..., pulmonary atresia, aortopulmonary collaterals, diaphragmatic hernia (left), pulmonary hypoplasia (unilateral), dysmorphic features; left congenital diaphragmatic hernia and complex heart defects diagnosed by ultrasound; pulmonary artery hypoplasia, aortic root ectasia, 3 aorto- pulmonary collateral arteries; unilateral hypoplasia; bulbous nose, micrognathia, pterygia, club feet Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset <01y Phenotype/Onset - Protein - Owner name Sarah Beecroft Database submission license No license selected Created by Sarah Beecroft Date created 2020-10-07 10:45:21 +02:00 (CEST) Date last edited 2021-03-03 11:43:34 +01:00 (CET)

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