Global Variome shared LOVD

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Phenotype #0000207628 Individual ID 00269837 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., 7d-deceased; microcephaly (-2.5 SD birth), no developmental milestones; apnea, diaphragmatic myoclonia, diffuse polymicrogyria, cobblestone-like malformation Age/Examination 00y00m07d (7 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 14:33:46 +01:00 (CET)

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