Phenotype #0000330904

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00441464
Associated disease	TBS
Phenotype details	congenital anal atresia, rectal perineal fistula, ventricular septal defect, patent ductus arteriosus, pulmonary hypertension, finger deformities
Diagnosis/Initial	Townes-Brocks syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	tbs
Age/Examination	00y02m (2 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-07 19:51:54 +01:00 (CET)
Date last edited	N/A

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