Phenotype #0000357349

Individual ID 00472546
Associated disease TBS
Phenotype details imperforate anus; normal thumbs; external ear aplasia; mixed hearing loss; normal renal ultrasonography; hand/foot syndactylies
Diagnosis/Initial Townes-Brocks syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite -
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 2026-02-23 15:37:01 +01:00 (CET)
Date last edited N/A

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