Global Variome shared LOVD

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

Phenotype #0000292322 Individual ID 00231371 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite NEDLIB Inheritance Isolated (sporadic) Phenotype details 3m-deceased; OFC 10th; developmental delay; focal seizures, tonic-clonic seizures; head growth deceleration; brain MRI cerebellar atrophy; exaggerated startle response Age/Examination 00y03m (3 months) 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 14:38:47 +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.