Global Variome shared LOVD

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Phenotype #0000333752 Individual ID 00444499 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite MRLIAF Phenotype details see paper; ..., intellectual disability severe (IQ 20), global developmental delay, hypotonia, absent speech, autism; 7y-epilepsy; cerebral MRI: small periventricular heterotopia and dilated, cortical veins, extensive naevus; height -1.7 SD, weight +0.5 SD Inheritance Isolated (sporadic) Age/Examination 31y (31 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 2023-12-24 18:16:19 +01:00 (CET) Date last edited 2023-12-24 18:22:36 +01:00 (CET)

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