Global Variome shared LOVD

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Phenotype #0000207619 Individual ID 00269828 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., 2w-deceased; primary microcephaly (-3 SD birth), no developmental milestones; generalized apnea, status epilepticus; polymicrogyria; unlayered polymicrogyria and complete cortical disorganization Age/Examination 00y00m14d (14 days) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-12-07 13:20:49 +01:00 (CET) Date last edited 2019-12-07 14:00:25 +01:00 (CET)

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