Global Variome shared LOVD

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Phenotype #0000357379 Individual ID 00472582 Associated disease TBS Phenotype details imperforate anus, recto-vaginal fistula; triphalangeal thumb; preaxial polydactyly right side; dysmorphic, mild hypotelorism, small retroverted ears; 5y-mild mental retardation; mild perceptive hearing loss; both feet long toes, second toe overlapping third; elder sister died shortly after birth (short neck, malformed ears, absence external auditory canal, no thumbs and, malformed radii, esophageal atresia, tetralogy of Fallot, unilateral dysplastic kidney); 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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