Phenotype #0000357377

Individual ID 00472580
Associated disease TBS
Phenotype details anal ectopy, stenosis; bilateral triphalangeal thumbs; small dysplastic ears; normal right kidney, left kidney in pelvic position; 3m-mild left-sided hearing loss, right moderate hearing loss; MRI brain normal; 2.5y-normal psychomotor development ; normal renal function; no urogenital abnormalities
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 InternationalCreative Commons License
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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