Global Variome shared LOVD

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Phenotype #0000357361 Individual ID 00472564 Associated disease TBS Phenotype details imperforate low anterior positioned anus (transposition anoplasty); left preauricular tag, left preauricular pit, small squared left helix; 11m-slight facial asymmetry; deep sacral dimple; left triphalangeal bifid thumb, single proximal phalanx, right trifid thumb, duplicated proximal phalanx; carpal bones/radius/ulna normal bilaterally; 1y-surgery remove the radial duplicate thumb, excision proximal interphalangeal joint; postnatal left renal agenesis, normal appearance right kidney, normal adrenals, normal uterus, normal ovaries, normal bladder; impaired renal function; 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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