Phenotype #0000357364

Individual ID 00472567
Associated disease TBS
Phenotype details bilateral duplicated triphalangeal thumbs; dysplastic ears; bilateral 3/4 cutaneous syndactyly toes; anal stenosis (anoplasty surgery; 4y-corrected right-sided strabismus; normal hearing; speech therapy, speech delay; normal renal function; no 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 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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