Global Variome shared LOVD

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Phenotype #0000355619 Individual ID 00470723 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., mild intellectual disability; behavioural changes, hyperactivity; epilepsy; otapostasis, small ears; supernumerary nipple; ventricular septal defect; hydronephrosis (antenatal), bilateral vesicoureteral reflux grade IV; hyperprolinemia Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-08 15:51:34 +01:00 (CET) Date last edited N/A

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