Global Variome shared LOVD

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

Phenotype #0000357190 Individual ID 00472387 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 4y6m-deceased; hypotonia (infancy); severe global developmental delay; no psychomotor regression, since early life; progressive disease; sleep problems; 1m-myoclonic, tonic, clonic, focal generalized tonic-clonic seizures; brisk deep-tendon reflexes; hypotonia; muscle weakness; no abnormal movement; dysmorphic features; Inheritance Familial, autosomal recessive Age/Examination 4y6m (4 years, 6 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 2026-02-09 14:23:44 +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.