Phenotype #0000304359

Individual ID 00412354
Associated disease DEE
Diagnosis/Initial developmental and epileptic encephalopathy
Diagnosis/Definite -
Phenotype details see paper; ..., no microcephaly; developmental delay; infantile spasms, did not respond to vigabatrin, corticosteroids or adrenocorticotrophic hormone; hypotonia; norml vision; no GI dysmotility/feeding problems; intrauterine growth restriction; MRI brain normal; Hypsarrhythmia
Inheritance Isolated (sporadic)
Age/Examination 00y10m (10 months)
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 2022-06-27 19:41:20 +02:00 (CEST)
Date last edited N/A

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