Global Variome shared LOVD

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Phenotype #0000355441 Individual ID 00470292 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., intra-uterine growth retardation; birth 37w; low birth weight (<2500g); 9m-sit; 18m-walk; 18m-first word; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; sleep problems, wakes frequently; special education; no gastro-intestinal problems; no hearing loss; strabismus; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; dense teeth; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 1.7y Age/Diagnosis - Age/Onset 4m 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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