Phenotype #0000357369

Individual ID 00472572
Associated disease TBS
Phenotype details anteriorally placed anus, anal stenosis (treated at birth); dysplastic ears; senorineural hearing loss; congenital lamellar cataracts/microphthalmia, right eye smaller than left eye; overlapping toes (II and IV on III); facial asymmetry, right side face smaller than left sid; short thumbs, short third left toe, small nail second right toe; 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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