Phenotype #0000326884

Individual ID 00436771
Associated disease DIH
Diagnosis/Initial congenital diaphragmatic hernia
Diagnosis/Definite -
Phenotype details see paper; ..., alive; bilateral ventral CDH with hernia sacs; epigastric skin-covered abdominal-wall defect; hypertelorism, prominent forehead, broad flattened nasal bridge, downslanting palpebral fissures, low-set ears, micrognathia, anteverted nares; no neurodevelopmental features; membranous ventricular septal defect, atrial septal defect, hydronephrosis, unilateral cryptorchidism, unilateral inguinal hernia
Inheritance Isolated (sporadic)
Age/Examination -
Age/Diagnosis -
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 2023-10-06 11:49:26 +02:00 (CEST)
Date last edited N/A

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