Global Variome shared LOVD

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Phenotype #0000350122 Individual ID 00464061 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ..., birth weight 2.92 (SD-1.0); 7.3y-weight 17.6kg (SD-2.5), height 110cm (SD-2.5), OFC 50.5cm (SD-1.2); 11m-sit; 24m-walk; no behavioral issues; neonatal hypotonia; no swallowing difficulties; possible absence seizures; no cardiac anomalies; mild cutaneous syndactyly digits 1-4 in hands Inheritance Isolated (sporadic) Age/Examination 18.3y 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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