Global Variome shared LOVD

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Phenotype #0000346990 Individual ID 00458559 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDHBA Phenotype details see paper; ..., birth at term; severe global developmental delay, severe intellectual disability; delayed speech; central tone hypotonia; peripheral tone hypotonia; seizures; choreiform movements; MRI bilateral incomplete hippocampal rotation, thinningcorpus callosum Inheritance Familial, autosomal recessive Age/Examination 9y (9 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 2024-12-18 16:32:47 +01:00 (CET) Date last edited N/A

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