Phenotype #0000188767

Individual ID 00250221
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details died from pulmonary insufficiency; gestation 35w; birth weight 1700g; respiratory distress requiring inhaled nitrous oxide, hydrocortisone, prostaglandin and FiO2 100%, attributed to RDS; atrioventricular septal defect, ostium primum atrial septal defect, small ventricular septal defect, patent ductus arteriosus, mildly hypoplastic left ventricle, bicuspid aortic valve; possible duodenal atresia, possible intestinal malrotation; moderate bilateral pelvicaliectasis, mild to moderate proximal urethral dilatation, probable mild to moderate distal ureteral dilatation; absent spleen, transverse orientation liver, compatible with abdominal heterotaxy; severe respiratory distress
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name LOVD
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2012-11-24 11:19:52 +01:00 (CET)
Date last edited N/A

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