Global Variome shared LOVD

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Phenotype #0000355454 Individual ID 00470305 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., no prenatal growth anomalies; birth 34w3d; premature birth; low birth weight (<2500g); 2y-walk; motor delay; speech delay; aggression, self injury; autism; intellectual disability, developmental delay; seizures; hypotonia; MRI decreased size of minimally prominent lateral ventricles, decreased size of minimall prominent third ventricle. Decreased size of minimally prominent extra‐axial CSF spaces, periventricular signal abnormality compatible with gliosis, cyst at the caudal thalamic groove; loss of balance; sleep problems, falling asleep, melatonin; special education; feeding difficulties/failure to thrive, due to ASD, jaw weakness; no gastro-intestinal problems; no hearing loss; vision abnormalities; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; yes, tapered fingertips, broad 3rd and 4th digits; no plagiocephaly; single palmar crease; no integumentary; widely spaced; no recurrent infections Inheritance Isolated (sporadic) Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset 14d 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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