Global Variome shared LOVD

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Phenotype #0000327852 Individual ID 00437945 Associated disease WITKOS Diagnosis/Initial - Diagnosis/Definite WITKOS Phenotype details see paper; ..., intellectual disability, short stature, dysmorphic facial features, long face, prominent forehead, smooth-long philtrum, broad eyebrows, retrognathia, malformed ears, MRI brain anomalies, no epilepsy, autism spectrum disorder, no digital anomaly, no microcephaly, no joint laxity Inheritance Unknown Age/Examination 07y (7 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 2023-10-17 17:02:37 +02:00 (CEST) Date last edited N/A

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