Global Variome shared LOVD

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Phenotype #0000357406 Individual ID 00472610 Associated disease TBS Phenotype details see paper; ..., anomaly anus; abnormal hands; abnormal feet; abnormal ears; hearing loss; abnormality kidneys; normal renal function; urogenital abnormalities; normal heart Diagnosis/Initial Townes-Brocks syndrome Inheritance Familial, autosomal dominant 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 2026-02-24 09:20:44 +01:00 (CET) Date last edited N/A

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