Global Variome shared LOVD

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Phenotype #0000355457 Individual ID 00470308 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite MRD21 Phenotype details see paper; ..., smaal for gestational age; birth at term; low birth weight (<2500g); microcephaly; 12m-walk; no speech; motor delay; speech delay; autism; intellectual disability, developmental delay; seizures; no hypotonia; MRI small nonenhancing foci of hyperintense T2/FLAIR periventricular white matter signal abnormality is suspicious for periventricular leukomalacia; no sleep problems; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no urogenital anomalies; no musculoskeletal anomalies; no integumentary; normal teeth; Inheritance Isolated (sporadic) Age/Examination 4y (4 years) Age/Diagnosis - Age/Onset 3y6m 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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