Global Variome shared LOVD

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Phenotype #0000343483 Individual ID 00454876 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, acquired; global developmental delay; non-ambulatory; speech few words (23m-said mama); intellectual disability; behavioral issues; hypotonia; no seizures (not noted by 3 years 8 months); MRI brain abnormal, mild prominence of the temporal horns, occipital horns, bilateral atria, posterior bodies of the lateral ventricles, corpus callosum is present but appears mildly thinned posteriorly Inheritance Isolated (sporadic) Age/Examination 3y (3 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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