Global Variome shared LOVD

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

Phenotype #0000356440 Individual ID 00471633 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., intrauterine growth retardation; prenatal growth filure; no microcephaly; speech delay; mild intellectual disability; attention deficit hyperactivity disorder; dysmorphic features; no seizures, episodes of leg spasticity; MRI brain normal; neonatal thrombocytopenia, premature ventricular contractions, horseshoe kidney, enuresis, strabismus, toe walking, constipation Inheritance Unknown Age/Examination - 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 2025-12-28 16:46:15 +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.