Global Variome shared LOVD

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Phenotype #0000343461 Individual ID 00454854 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, aquired (noted at 9 months); severe global developmental delay; 3y6m-first steps, uses an adaptive stroller for long distances (tires easily); speech few words (but largely non-verbal); intellectual disability; behavioral issues; self-stimulation behavior: flapping, kicking legs, banging head; can be aggressive when frustrated; mouths objects; hypotonia; seizures; MRI brain abnormal, diffuse diminutive bilateral cerebreal hemispheric white matter volume, hypoplastic callosal rostrum, prominent partial thinning of the corpus callosum, nonspecific dysmorphic alteration of the milateral gyral pattern Inheritance Isolated (sporadic) Age/Examination 9y (9 years) 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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