Global Variome shared LOVD

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Phenotype #0000333455 Individual ID 00444203 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite BBSOAS Phenotype details developmental delay (mild), almost normal speech abilities; behavioural disorders: attention deficit hyperactivity disorder and autism spectrum disorder; balance and coordination deficits; occasional generalized epileptic-like anomalies during light sleep, 4y8m-febrile seizures; low thyroid-stimulating hormone; hypotonia and hyperlaxity; mild facial asymmetry; thinning of corpus callosum Inheritance Isolated (sporadic) Age/Examination - 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 2023-12-20 21:37:03 +01:00 (CET) Date last edited N/A

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