Global Variome shared LOVD

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Phenotype #0000346970 Individual ID 00458535 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite NEDHBA Phenotype details see paper; ..., weight 10.7kg (SD-4.9), height 101.5cm (SD-1.3), 50cm (SD-1.7); feeding difficulties; severe intellectual disability; delayed gross motor development, rolling; speech babbles; no hearing loss; no anxiety; no stereotypies; no hyperactivity; no seizures; reduced central tone; decreased peripheral tone; normal tendon reflexes; MRI brain slit lateral ventricles, dysmorphic corpus callosum, distorted configuration fornix, normal septum pellucidum; coxa vara anteverta, developmental dysplasia hip Inheritance Familial, autosomal recessive Age/Examination 04y08m (4 years, 8 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 16:26:37 +01:00 (CET)

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