Global Variome shared LOVD

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Phenotype #0000359909 Individual ID 00475195 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite RATARS Phenotype details see paper; ..., global developmental delay; no intellectual disability; delayed gross motor skills; language delay; abnormal behavior; aggressive behavior/self-injurious behavior (in past); PDD-NOS; stereotypic behavior; no seizures; no cardiac features; no congenital heart defects; chronic gastroesophageal reflux, chronic constipation, diarrhea, bloody stools, vomiting; corrected vision problems; no neonatal asphyxia; no hearing loss; no precocious puberty; respiratory problems; significant externalizing and internalizing behavior problems Inheritance Isolated (sporadic) Age/Examination 6y11m (6 years, 11 months) 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 2026-04-03 16:14:32 +02:00 (CEST) Date last edited N/A

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