Global Variome shared LOVD

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Phenotype #0000242260 Individual ID 00320214 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details transfusion every 4–10 weeks; severe global developmental delay, seizure disorder, microcephaly, microgyria, dystonia (axial hypotonia with appendicular hypertonia), congenital bilateral cataracts, failure to thrive, chronic kidney disease (stage II-III) Inheritance Isolated (sporadic) Age/Examination 05y (5 years) 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 2020-11-24 13:23:14 +01:00 (CET) Date last edited 2020-11-24 13:27:10 +01:00 (CET)

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