Global Variome shared LOVD

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

Phenotype #0000357194 Individual ID 00472391 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., 5y9m-delayed motor milestones, hypotonia (infancy), 18m-sit, 3y- wakl; profound speech delay, no expressive language, cannot perform activities daily living; no regression; 8m-GTC seizures, no tatus epilepticus; generalized hypotonia, preserved reflexes, no weakness, no spasticity, no dystonia, no ataxia; gait broad-based, frequent falls; no cranial nerve abnormalities, no sensory deficits, no dysmorphic features; 4y-MRI brain faint white matter signal alterations, incomplete myelination, non-specific bilateral thalamic signal abnormalities Inheritance Familial, autosomal recessive 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 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.