Global Variome shared LOVD

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Phenotype #0000357319 Individual ID 00472513 Associated disease TBS Phenotype details see paper; ..., birth vaginal delivery 38.5w, weight 2.735kg, length 48cm, OFC 34.5cm, anal atresia (2d-corrected by posterior sagittal anorretoplasty); developmental delay, speech delay, hyperactive, aggressive behavior, short stature, low anterior hairline, left microtia, agenesis helix, bilateral preauricular tags, low set ears, long eyelashes, epicanthus, deviated nose, downward pointing tip, short neck Diagnosis/Initial Townes-Brocks syndrome Inheritance Unknown Diagnosis/Definite TBS1 Age/Examination 05y (5 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 2026-02-23 10:02:33 +01:00 (CET) Date last edited 2026-02-23 10:08:40 +01:00 (CET)

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