Global Variome shared LOVD

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Phenotype #0000350118 Individual ID 00464057 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ..., birth weight 3.57 (SD+1.0); 5.5y-weight 19kg (SD0.0), height 108cm (SD-0.6), OFC 48.3cm (SD-1.9); 12m-sit; 18m-walk; 36m-first words; passive, easily frustrated; neonatal hypotonia; swallowing difficulties, slow eate, chokes easily; no seizures; large atrial septal defect; tongue tie Inheritance Isolated (sporadic) Age/Examination 10.0y 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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