Global Variome shared LOVD

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Phenotype #0000346971 Individual ID 00458536 Associated disease NDD Diagnosis/Initial intellectual disability Diagnosis/Definite NEDHBA Phenotype details see paper; ..., birth-OFC normal; weight 19.8kg (SD-1.8), height 125cm (SD-0.4), 47.5cm (SD-4.5); severe intellectual disability; delayed gross motor development, crawling; speech babbles; anxiety; stereotypies; no hyperactivity; seizures, generalized tonic-clonic seizures; reduced central tone; increased peripheral tone; exaggerated or brisk tendon reflexes, clonus; ankle contractures Inheritance Familial, autosomal recessive Age/Examination 12y (12 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 16:26:52 +01:00 (CET)

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