Global Variome shared LOVD

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Phenotype #0000321822 Individual ID 00431216 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details microcephaly, severe intellectual disability, no seizures; EEG irregular slow dysrhythmia, occipital abortive sharp waves; behavioral anomalies; MRI abnormalities; no facial dysmorphism; eye anomalies; choanal atresia, cryptorchidism, inguinal hernia, flat feet Inheritance Isolated (sporadic) Age/Examination 12y (12 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 2023-02-03 14:23:56 +01:00 (CET) Date last edited N/A

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