Global Variome shared LOVD

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Phenotype #0000343472 Individual ID 00454865 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly; severe global developmental delay; 3y-walk; speech few words (but essentially non-verbal, communicates with gestures, pointing, PECS); intellectual disability, severe; behavioral issues; Some aggressive behaviours, sensory-seeking.; hypotonia; no seizures; MRI brain abnormal, delayed myelination of the subcortical U fibres at frontotemporal poles (WM intensities flair-RJL). Smaller left temporal lobe, thin corpus callosum, dysplastic left hypocampus Inheritance Isolated (sporadic) Age/Examination 8y6m (8 years, 6 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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