Global Variome shared LOVD

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Phenotype #0000356439 Individual ID 00471632 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., intrauterine growth retardation; prenatal growth filure; relative microcephaly; motor delay; speech delay; mild intellectual disability; attention deficit hyperactivity disorder; dysmorphic features; episodes of recurrent anterior epileptiform discharges in sleep; MRI brain nonspecific lesions may reflect gliosis or dysmyelination; neonatal thrombocytopenia, spastic diplegia, small patent foramen ovale, trivial patent ductus arteriosus, trivial mitral valve regurgitation, bilateral uretral duplication systems, enuresis, myopia, chronic constipation Inheritance Unknown Age/Examination - Age/Diagnosis - Age/Onset - 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 2025-12-28 16:46:15 +01:00 (CET) Date last edited N/A

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