Global Variome shared LOVD

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Phenotype #0000357421 Individual ID 00472625 Associated disease TBS Phenotype details see paper; ..., imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, progressive chronic renal failure Diagnosis/Initial Townes-Brocks syndrome Inheritance Unknown Diagnosis/Definite TBS Age/Examination 14y (14 years) 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 2026-02-24 09:27:41 +01:00 (CET) Date last edited N/A

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