Global Variome shared LOVD

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Phenotype #0000355413 Individual ID 00470264 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., no prenatal growth anomalies; birth 38w; normal birth weight; 7m-sit; 15m-walk; 21m-first word; 36m-first sentence; motor delay; speech delay; ADHD, oppositional, compulsive and impulsive; no autism; intellectual disability, developmental delay; no seizures; MRI normal; headaches; sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; strabismus; no cleft palate/no palatal anomalies; no cardiac defect; left dysplastic kidney; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; midline is off; otitits Inheritance Isolated (sporadic) Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset 3m 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 2025-11-30 10:24:36 +01:00 (CET) Date last edited N/A

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