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 InternationalCreative Commons License
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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