Global Variome shared LOVD

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Phenotype #0000343489 Individual ID 00454882 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly, aquired; severe global developmental delay; 2y6m-walk; no speech; intellectual disability; behavioral issues; gets very upset with loud noise eg at school didn’t eat for a year. Anxiety - bites hands when upset.stuffs mouth with food. Tends to mouth things Shows a lot of hand regard; hypotonia (more when younger); no seizures; MRI brain abnormal, 25m-showed marked thinning of whole corpus callosum. Global reduction in white matter and prominence of lateral ventricular system. Mega cisterna magna,subtle loss of volume of brainstem. No obvious cortical dysplasia Inheritance Isolated (sporadic) Age/Examination 3y4m (3 years, 4 months) 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 2024-09-30 10:26:47 +02:00 (CEST) Date last edited N/A

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