Global Variome shared LOVD

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Phenotype #0000274261 Individual ID 00380411 Associated disease NDD Diagnosis/Initial encephalopathy Diagnosis/Definite - Phenotype details see paper; ..., global developmental delay, intractable early infantile-onset seizures, microcephaly, severe-to-profound intellectual disability, axial hypotonia, progressive appendicular spasticity Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-08-16 13:52:33 +02:00 (CEST) Date last edited N/A

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