Global Variome shared LOVD

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Phenotype #0000355452 Individual ID 00470303 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., intra-uterine growth retardation, no prenatal growth anomaliesse hypoplasic, NT; birth 40w; normal birth weight; 6m-sit; 18m-walk; 9y-first sentence; no motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; no sleep problems; special education; feeding difficulties/failure to thrive; tube feeds; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; camptodactly; no plagiocephaly; no single palmar crease; no integumentary; persistance of deciduous teeth requirring intervention, delayed definitive teeth; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 10y (10 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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