Global Variome shared LOVD

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

Phenotype #0000292312 Individual ID 00231349 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite NEDLIB Inheritance Isolated (sporadic) Phenotype details OFC <3rd; developmental delay; intellectual disability; no seizures; autism spectrum disorder; head growth deceleration; delayed speech; self-harm behaviour Age/Examination 31y (31 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution 4.0 International Created by Johan den Dunnen Date created 2022-01-17 14:21:30 +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.