Global Variome shared LOVD

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Phenotype #0000355442 Individual ID 00470293 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., intra-uterine growth retardation; birth 30w; oligohydramnios; 9m-sit; 18m-walk; 12m-first word; 30m-first sentence; motor delay; speech delay; behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; sleep problems, difficulty falling asleep; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; hearing loss; nystagmus, wears glasses; high arched palate; no cardiac defect; no urogenital anomalies; scoliosis; no plagiocephaly; no single palmar crease; no integumentary; teeth growing before baby teeth fall off; 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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