Global Variome shared LOVD

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Phenotype #0000348321 Individual ID 00460599 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SIHIWES Phenotype details see paper; ..., motor delay, 13m-sit, 22m-walk; speech delay, still has speech difficulties; mild hypotonia; mild intellectual disability; no hearing loss; no palatal anomalies; no hand anomalies; ECG mild to moderate mitral insuffiency; no eye anomalies Inheritance Isolated (sporadic) Age/Examination 8y (8 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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