Global Variome shared LOVD

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Phenotype #0000348315 Individual ID 00460593 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SIHIWES Phenotype details see paper; ..., motor delay; speech delay; no hearing loss; no palatal anomalies; syndactyly, abnormal thumb; no undescended testis, no micropenis; no growth hormone deficiency; ECG tetralogy of Fallot; redundant supra-arytenoid tissue, subglotic stenosis, inguinal hernia Inheritance Isolated (sporadic) Age/Examination 0.3y 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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