Phenotype #0000357185

Individual ID 00472382
Associated disease DEE
Diagnosis/Initial developmental and epileptic encephalopathy
Diagnosis/Definite -
Phenotype details see paper; ..., hypotonia (infancy); severe global developmental delay; 3m-psychomotor regression; progressive disease; sleep problems; generalized tonic-clonic seizures, 3m-focal, myoclonic; brisk deep-tendon reflexes; normal muscle tone; no muscle weakness; abnormal movement; dysmorphic features; 6m-MRI brain brain atrophy, delayed myelination, small asal ganglia/hippocampi
Inheritance Familial, autosomal recessive
Age/Examination 6m
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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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