Global Variome shared LOVD

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Phenotype #0000355436 Individual ID 00470287 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., no prenatal growth anomalies; birth 39w; low birth weight (<2500g); microcephaly; 60m-first sentence; motor delay; speech delay; ADHD, aggression, odd; no autism; intellectual disability, developmental delay; no seizures; hypotonia; loss of balance; sleep problems, difficulty falling asleep and wakes frequently; behavior; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; strabismus, astigmatism; cleft palate; no cardiac defect; no urogenital anomalies; scoliosis; no plagiocephaly; no single palmar crease; no integumentary; Cavities and caps on almost all teeth; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset 6m 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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