Global Variome shared LOVD

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Phenotype #0000343469 Individual ID 00454862 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; no short stature; no microcephaly; severe global developmental delay; non-ambulatory; no speech; intellectual disability, severe; no behavioral issues; hypotonia; seizures; MRI brain abnormal, hypoplasia of the corpus callosum, ventriculomegaly, decreased white matter Inheritance Isolated (sporadic) Age/Examination 2y5m (2 years, 5 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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