Global Variome shared LOVD

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Phenotype #0000228813 Individual ID 00301715 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details symptom starting early in life with moderate developmental delay, hypotonia, recurrent event of loss of tone mimicking atonic seizures with normal interictal EEG. Later in life these episodes are triggered by emotions such as laughter and fear. They have subclinical central hypothyroidism and normal brain MRI. Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-05-22 17:20:34 +02:00 (CEST) Date last edited N/A

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