Global Variome shared LOVD

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Phenotype #0000327868 Individual ID 00437961 Associated disease WITKOS Diagnosis/Initial - Diagnosis/Definite WITKOS Phenotype details see paper; ..., birth 41w, weight 4.03 (1.025); no hypotonia; no feeding difficulties; moderate intellectual disability; global developmental delay; receptive > expressive ; 2y-first steps; no psychiatric diagnosis; no neurological hypotonia; epilepsy, EEG abnormal; MRI brain thinning posterior body corpus callosum; Inheritance Familial, autosomal dominant Age/Examination - Age/Diagnosis - Age/Onset 25y 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 2023-10-17 21:19:59 +02:00 (CEST) Date last edited N/A

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