Global Variome shared LOVD

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Phenotype #0000343500 Individual ID 00454893 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly (commesurate with other growth parameters); severe global developmental delay; 2y6m-3y-walk; no speech; intellectual disability; behavioral issues; repetitive behaviours, sociable, adaptable, hates loud noises, limited variety of food; hypotonia; no seizures; MRI brain abnormal, slender bur normally modelled corpus callosum, with mild fullness of ventricles and extracerebral CSF spaces aged 7y Inheritance Isolated (sporadic) Age/Examination 6y (6 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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