Phenotype #0000330905

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00441465
Associated disease	TBS
Phenotype details	external ear deformity, deafness, toe deformities, pulmonary hypertension, normal anus
Diagnosis/Initial	Townes-Brocks syndrome
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	TBS
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-07 19:56:56 +01:00 (CET)
Date last edited	N/A

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