Global Variome shared LOVD

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Phenotype #0000357186 Individual ID 00472383 Associated disease DEE Diagnosis/Initial developmental and epileptic encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., hypotonia (infancy); severe global developmental delay; no psychomotor regression, since early life; progressive disease; sleep problems; generalized tonic-clonic seizures, 50d-atonic seizures; brisk deep-tendon reflexes; normal muscle tone; muscle weakness; abnormal movement; dysmorphic features; 4m-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi Inheritance Familial, autosomal recessive Age/Examination 16m 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

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