Global Variome shared LOVD

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Phenotype #0000355418 Individual ID 00470269 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., no prenatal growth anomalies; birth 40w; normal birth weight; 8m-sit; 18m-walk; motor delay; no speech delay; no behavioural anomalies; autism; intellectual disability, developmental delay; no seizures; no hypotonia; EEG normal; loss of balance; sleep problems, wakes frequently; no special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; bilateral hearing loss; vision abnormalities; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; crowded teeth; recurrent infections Inheritance Isolated (sporadic) Age/Examination 3y (3 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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