Global Variome shared LOVD

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Phenotype #0000357372 Individual ID 00472575 Associated disease TBS Phenotype details dysplastic ears; preauricular tag; no hearing loss; imperforate anus; preaxial polydactyly both hands, syndactyly second/third toes; 1y-mild developmental delay; 15m-walk; 2y8m-normal mental development, normal speech development; 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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