Global Variome shared LOVD

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Phenotype #0000357362 Individual ID 00472565 Associated disease TBS Phenotype details imperforate anus; low set ears, overfolded superior helices; bilateral preauricular tags; bilateral triphalangeal thumbs, hypoplastic thenar eminences; 8m-normal growth, normal development; left ear hearing; normal renal function; no urogenital abnormalities 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 19:54:27 +01:00 (CET) Date last edited N/A

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