Phenotype #0000357375

Individual ID 00472578
Associated disease TBS
Phenotype details birth anal stenosis, mucous crest along anal-scrotal line; unilateral cryptorchidism, unilateral renal agenesis; bilateral triphalangeal thumbs, bilateral overriding fourth on third toes; mildly dysplastic ears; OFC 10th, length 5oth; normal renal function; 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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