Global Variome shared LOVD

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Phenotype #0000331175 Individual ID 00441756 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., motor delay; short attention span, aggression; microcephaly; dysmorphism; osteopenia, scoliosis, pes planus, ankle eversion; failure to thrive Inheritance Isolated (sporadic) Age/Examination 16y (16 years) 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 2023-11-10 18:34:41 +01:00 (CET) Date last edited N/A

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