Phenotype #0000357341

Individual ID 00472538
Associated disease TBS
Phenotype details imperforate anus, perineal fistula; triphalangeal thumbs; ears microtia; moderatesensorineural hearing loss; normal renal ultrasonography; foot malformation; arachnodactyly
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 15:37:01 +01:00 (CET)
Date last edited N/A

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