Global Variome shared LOVD

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Phenotype #0000223441 Individual ID 00295974 Associated disease MRD20 Phenotype details Global developmental delay (severe), intellectual disability, microcephaly, hypotonia (severe) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset 00y03m? Phenotype/Onset - Birth_Details - Protein - Owner name Stefano Giuseppe Caraffi Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Stefano Giuseppe Caraffi Date created 2020-03-31 16:53:50 +02:00 (CEST) Date last edited 2020-04-01 00:09:09 +02:00 (CEST)

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