Phenotype #0000357384

Individual ID 00472587
Associated disease TBS
Phenotype details normal birth parameters; imperforate anus; heart murmur, PDA, small ventricular septal defect (3y-closed spontaneously); dysplastic ears; 5y6m-mild bilateral sensorineural hearing loss; broad thumbs, broad great toe, clinodactyly, overlapping second and third toes; pes planus;
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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