Global Variome shared LOVD

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

Phenotype #0000359948 Individual ID 00475235 Associated disease diabetes Phenotype details see paper; ..., birth weight Z−0.97; 10w-diabetes; severe atopic dermatitis, autoimmune hypothyroidism; microcephaly; developmental delay; loose skin folds, laryngomalacia tracheomalacia, multiple epiphyseal dysplasia, high myopia, alternating exotropia Diagnosis/Initial autoimmune diabetes Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 11y (11 years) 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 2026-04-04 16:15:37 +02:00 (CEST) Date last edited N/A

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