Global Variome shared LOVD

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Phenotype #0000127752 Individual ID 00155023 Associated disease EIEE15 Phenotype details see paper; ..., infantile spasms flexor type mainly, appearing 3-7m, accompanied by hypsarrhythmic EEG-pattern; when grew older, seizures continued and evolved to Lennox-Gastaut syndrome; severe developmental delay evident first few months of life, predating seizure disorder Diagnosis/Initial West syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite EIEE-15 Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Andreas Kuss Database submission license No license selected Created by Johan den Dunnen Date created 2018-03-17 16:15:56 +01:00 (CET) Date last edited N/A

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