Global Variome shared LOVD

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Phenotype #0000355424 Individual ID 00470275 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., prenatal growth anomalies; birth 38w6d; microcephaly; 12m-sit; 22m-walk; no speech; motor delay; no speech; no behavioural anomalies; autism; intellectual disability, developmental delay; no seizures; hypotonia; MRI normal; EEG normal; sleep problems, wakes frequently; special education; feeding difficulties/failure to thrive; laryngomalacia, constipation, tube feeds; no hearing loss; vision abnormalities; no cleft palate/no palatal anomalies; cardiac defect (no details); no urogenital anomalies; Serial casting, tenotomy, talipes; plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections Inheritance Unknown Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset 2m 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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