Global Variome shared LOVD

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Phenotype #0000355425 Individual ID 00470276 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., intra-uterine growth retardation; birth 37w; low birth weight (<2500g); oligohydramnios, low movement; 8m-sit; 14m-walk; 18m-first word; 36m-first sentence; no motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; MRI grey matter heterotropia; no sleep problems; feeding difficulties/failure to thrive; tube feeds; hearing loss; normal vision; no cleft palate/no palatal anomalies; no; no urogenital anomalies; musculoskeletal anomalies (no details; no plagiocephaly; no single palmar crease; no integumentary; abnormal decay, many cavitiies; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset utero 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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