Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

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 International Created by Johan den Dunnen Date created 2026-02-23 19:54:27 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.