Global Variome shared LOVD

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

Phenotype #0000000828 Individual ID 00001674 Associated disease KTZS Phenotype details uneventful pregnancy, birth, and newborn period, normal psychomotor development until onset of seizures, severe psychomotor delay after seizure onset; 2.5y small stature (-2,3 SD), microcephaly; admin; yellow teeth Diagnosis/Initial - Inheritance Familial Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Age/Examination 2y6m (2 years, 6 months) Protein - Owner name Division of Human Genetics, Innsbruck Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Division of Human Genetics, Innsbruck Date created 2012-10-23 11:16:07 +02:00 (CEST) Date last edited 2020-11-27 17:43:21 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.