Global Variome shared LOVD

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Phenotype #0000348316 Individual ID 00460594 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SIHIWES Phenotype details see paper; ..., motor delay, 27m-walk; speech delay; mild intellectual disability; no hand anomalies; undescended testis, no micropenis; ECG tetralogy of Fallot; trigonocephaly, feeding difficulties in infancy, vescicoureteral reflux Inheritance Isolated (sporadic) Age/Examination 6y (6 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 2025-01-28 15:50:33 +01:00 (CET) Date last edited N/A

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