Global Variome shared LOVD

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Phenotype #0000343476 Individual ID 00454869 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., short stature; no microcephaly (borderline OFC); severe global developmental delay; not yet walking; no speech; intellectual disability (probable); hypotonia; seizures; MRI brain abnormal, brain atrophy with hypoplastic corpus callosum and enlarged ventricles Inheritance Isolated (sporadic) Age/Examination 3y4m (3 years, 4 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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