Global Variome shared LOVD

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Phenotype #0000327863 Individual ID 00437956 Associated disease WITKOS Diagnosis/Initial - Diagnosis/Definite WITKOS Phenotype details see paper; ..., birth 41w, weight 2.92 (-1.33); feeding difficulties; moderate intellectual disability; global developmental delay; 12m--first words; 9m -sit unassisted; 16m-first steps; hyperactive behaviour; no neurological hypotonia; no epilepsy; MRI brain normal; deeply set eye, epicanthus inversus; uplifted earlobe; flat forehead; sparse scalp hair when young, ongoing difficulties with sucking, chewing and coordination of eating, poor sleep Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 5y 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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