Global Variome shared LOVD

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Phenotype #0000355444 Individual ID 00470295 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., normal birth weight; behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; mri anomalies; no sleep problems; feeding difficulties/failure to thrive, dysphagia; dysphagia; bilateral hearing loss; hypermetropia; no cleft palate/no palatal anomalies; stenosis of pulmonary valve, dilated ascending aorta; no urogenital anomalies; kyphosis; no plagiocephaly; no single palmar crease; no integumentary; small teeth, ectopic teeth; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 7y (7 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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