Global Variome shared LOVD

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

Phenotype #0000349767 Individual ID 00462267 Associated disease KTZS Phenotype details see paper; ..., learning disability, seizures and amelogenesis imperfecta Diagnosis/Initial Kohlschutter-Tonz syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite RNS Age/Diagnosis - Age/Onset - Phenotype/Onset - Age/Examination - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-02-07 10:46:40 +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.