Global Variome shared LOVD

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Phenotype #0000345807 Individual ID 00457344 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDLBF Phenotype details see paper; ..., no motor delay; intellectual disability; no regression of developmental milestones; no ADHD; repetitive behavior; obsessive behavior; no aggressive behavior; no self-injury behavior; MRI brain normal; no seizures; no epilepsy; no sleep disturbances; no congenital heart defects; no gastrointestinal disturbance; no skeletal alterations; no visual impairment; no hearing impairment; no hypotonia Inheritance Isolated (sporadic) Age/Examination 9y (9 years) Age/Diagnosis 9y 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 2024-11-08 11:01:45 +01:00 (CET) Date last edited N/A

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