Global Variome shared LOVD

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Phenotype #0000343487 Individual ID 00454880 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly, congenital; moderate global developmental delay; 32m-walk; 25m-speech few words; intellectual disability; behavioral issues; Happy girl, self-biting.; hypotonia; no seizures; MRI brain abnormal, 3d-normal, 18m-generalised reduction of white matter with thin corpus callosum in posterior aspect. Deemed non-specific and probably related to neonatal insult. Inheritance Isolated (sporadic) Age/Examination 4y (4 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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