Global Variome shared LOVD

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Phenotype #0000327875 Individual ID 00437968 Associated disease WITKOS Diagnosis/Initial - Diagnosis/Definite WITKOS Phenotype details see paper; ..., birth at term, weight normal; hypotonia; no feeding difficulties; no intellectual disability (IQ100); ; schizoaffective disorder; no neurological hypotonia; no epilepsy; ; pelvic kidney, palate defect, 4y-left cdh diagnosis Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 19y 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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