Global Variome shared LOVD

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Phenotype #0000350119 Individual ID 00464058 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ..., birth weight 2.78 (SD+0.4); 3.3y-weight 12.1kg (SD-1.6), height 85cm (SD-2.8), OFC 46.5cm (SD-1.5); 6m-sit; 24m-walk; 48m-first words; no behavioral issues; no neonatal hypotonia; no swallowing difficulties; no seizures; no cardiac anomalies; MRI brain normal; absent left sided ear canal Inheritance Isolated (sporadic) Age/Examination 8.0y 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 2025-02-14 19:45:17 +01:00 (CET) Date last edited N/A

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