Phenotype #0000232599

Individual ID 00306768
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDAMSS
Phenotype details epilepsy, regression (5m-West Syndrome); seizures stopped after 6w treatment, now able to walk, drink, eat, speaks 3 words, understands 20-30 words, recently developed tics/immature movements vanishing after 2w, slight squint
Inheritance Isolated (sporadic)
Age/Examination 01y10m (1 year, 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 2020-07-20 10:29:50 +02:00 (CEST)
Date last edited 2020-07-20 10:35:56 +02:00 (CEST)

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