Global Variome shared LOVD

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Phenotype #0000346972 Individual ID 00458537 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite NEDHBA Phenotype details see paper; ..., weight 10.9kg (SD-3.5), height 100cm (SD-0.4), 44.5cm (SD-5.5); birth feeding difficulties; severe intellectual disability; delayed gross motor development, not rolling; speech sounds; no anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; decreased peripheral tone; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix/septum pellucidum; craniosynostosis, ankle contractures Inheritance Familial, autosomal recessive Age/Examination 04y (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 2024-12-16 23:21:23 +01:00 (CET) Date last edited 2024-12-18 16:27:05 +01:00 (CET)

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