Global Variome shared LOVD

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Phenotype #0000350114 Individual ID 00464053 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ..., birth weight 2.27 (SD-2.1); 5.6y-weight 16.2kg (SD-2.0), height 105.8cm (SD-1.9), OFC 49.5cm (SD-1.5); 6m-sit; 22m-walk; 12m-first words, 24m-lost speech; no behavioral issues; no neonatal hypotonia; swallowing difficulties; no seizures; ECG not tolerated; MRI brain normal; asthma, flexion deformity right 2nd-3rd fingers, umbilical hernia, pes planus, gastro-esophageal reflux disease Inheritance Isolated (sporadic) Age/Examination 6.1y 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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