Global Variome shared LOVD

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Phenotype #0000355439 Individual ID 00470290 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., no prenatal growth anomalies; birth 41w; normal birth weight; 9m-sit; 16m-walk; autism; intellectual disability, developmental delay; no seizures; no hypotonia; loss of balance; sleep problems, difficulty falling asleep; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; bilateral hearing loss; Duane's retraction syndrome; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; musculoskeletal anomalies (no details; no plagiocephaly; no single palmar crease; eczema; teeth anomalies (no details; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 23y (23 years) 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 2025-11-30 10:24:36 +01:00 (CET) Date last edited N/A

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