Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000357346 Individual ID 00472543 Associated disease TBS Phenotype details imperforate anus; hexadactyly, triphalangeal thumbs; external auditory atresia, ears microtia; profound mixed hearing loss; renal failure; foot malformations; retinal maculopathy; angioedema Diagnosis/Initial Townes-Brocks syndrome Inheritance Isolated (sporadic) Diagnosis/Definite TBS1 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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