Global Variome shared LOVD

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

Phenotype #0000357594 Individual ID 00472799 Associated disease ? Diagnosis/Initial intellectual disability, dysmorphism Diagnosis/Definite KDVS Phenotype details see paper; ..., intellectual disability (IQ50-60), dysmorphic features, epilepsy; dysmorphic (blepharophimosis, epicanthal folds, protruding ears, tubular nose, broad tip nose); scoliosis, hyperopia, strabismus, mild joint hypermobility Inheritance Isolated (sporadic) Age/Examination 07y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-02-28 13:54:37 +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.