Phenotype #0000357381

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00472584
Associated disease	TBS
Phenotype details	imperforate anteriorly placed anus; hypoplastic kidneys; vesicoureteral reflux; dysplastic ears, overfolded helices; broad thumb; normal renal function; urogenital abnormalities
Diagnosis/Initial	Townes-Brocks syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	TBS1
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-02-23 19:54:27 +01:00 (CET)
Date last edited	N/A

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