Phenotype #0000328580

Individual ID 00438677
Associated disease DEE
Diagnosis/Initial infantile spasms
Diagnosis/Definite -
Phenotype details see paper; ..., severe global developmental delay, severe intellectual disability; 4m-seizures; EEG modified hypsarrhythmia, myoclonic, diffuse slowing with myoclonic spikes; MRI brain atrophy, partial agenesis corpus callosum, delayed myelination, decreased N-acetylaspartate; acquired microcephaly, axial hypotonia
Inheritance Isolated (sporadic)
Age/Examination 09y06m (9 years, 6 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 2023-10-21 19:20:17 +02:00 (CEST)
Date last edited 2023-10-23 15:39:43 +02:00 (CEST)

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