Global Variome shared LOVD

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Phenotype #0000346968 Individual ID 00458533 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite NEDHBA Phenotype details see paper; ..., OFC 50.5cm (SD-2.3); severe intellectual disability; delayed gross motor development, >2y-walk; no speech (non-verbal); no hearing loss; anxiety; no stereotypies; hyperactivity; seizures; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum Inheritance Familial, autosomal recessive Age/Examination 08y10m (8 years, 10 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 2024-12-16 23:21:23 +01:00 (CET) Date last edited 2024-12-18 16:25:58 +01:00 (CET)

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