Global Variome shared LOVD

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Phenotype #0000296386 Individual ID 00403691 Associated disease KOS14 Phenotype details see papr; ..., 74d-deceased respiratory and infectious complications; prenatal omphalocele, severe polyhydramnios; 26w gestation amniodrainage required to avoid premature delivery, uterine contractions, cervical shortening; placental abruption requiring emergency Caesarean section; birth weight 760g; after birth silo applied to contain omphalocele, 4d-surgical correction completed; 0d-macroglossia,large philtrum, hypersialorrhea, bell-shaped thorax, coat-hanger ribs Diagnosis/Initial Kagami-Ogata syndrome Inheritance Familial, autosomal dominant Diagnosis/Definite KOS14 Age/Examination 00y00m74d (74 days) Age/Diagnosis - Prenatal - 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 2022-02-20 16:55:10 +01:00 (CET) Date last edited N/A

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