Phenotype #0000326871

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00436758
Associated disease	DIH
Diagnosis/Initial	congenital diaphragmatic hernia
Diagnosis/Definite	-
Phenotype details	see paper; ..., deceased; left diaphragm agenesis; no body-wall defect; hypertelorism; hypotonia; left lung segmentation defect, bicuspid aortic valve, two choroid cysts
Inheritance	Familial, X-linked dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission 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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