Global Variome shared LOVD

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Phenotype #0000355445 Individual ID 00470296 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., no prenatal growth anomalies; birth 38w; low birth weight (<2500g); "aged placenta"; 6m-sit; 1y-walk; 11m-first word; 18m-first sentence; speech delay; no behavioural anomalies; no autism; no intellectual disability, no developmental delay; seizures; no hypotonia; no sleep problems; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; hypermetropia; cleft palate; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; missing teeth, abnormal shape; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 2y (2 years) Age/Diagnosis - Age/Onset 1d 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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