Global Variome shared LOVD

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

Phenotype #0000352911 Individual ID 00467759 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., tetralogy of Fallot with right-sided aortic arch; low-set posteriorly rotated ears, long philtrum, flat nasal bridge; met developmental milestones; 1:1 supervision at school for visual difficulties; no seizures; family history of autism, ADHD, heart problems; mother unaffected Inheritance Familial Age/Examination 6y10m (6 years, 10 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-29 10:58:33 +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.