Global Variome shared LOVD

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Phenotype #0000350123 Individual ID 00464062 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ..., birth weight 2.80 (SD-1.3); 10.0y-weight 24.8kg (SD-1.7), height 129cm (SD-1.4), OFC 49.5cm (SD-2.1); 24m-sit; 48m-walk; 72m-first words; no behavioral issues; neonatal hypotonia; no swallowing difficulties; no seizures; no cardiac anomalies; MRI brain delayed myelination; duplex right renal collecting system Inheritance Isolated (sporadic) Age/Examination 18.7y 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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