Phenotype #0000357423

Individual ID 00472627
Associated disease TBS
Phenotype details see paper; ..., sudden loss of visual acuity, optic neuropathy; imperforate anus; bilateral dysplastic ears, bilateral triphalangeal thumbs, congenital sensorineural deafness; feet operated toe malposition; bilateral partial proximal synostosis metatarsals IV-V, fusion some tarsal bones; bilateral inguinal hernias, umbilical hernia
Diagnosis/Initial Townes-Brocks syndrome
Inheritance Unknown
Diagnosis/Definite TBS1
Age/Examination 44y (44 years)
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 2026-02-24 09:46:06 +01:00 (CET)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.