Global Variome shared LOVD

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Phenotype #0000350117 Individual ID 00464056 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ..., birth weight 1.84 (SD-0.5); 2.1y-weight 13.3kg (SD-0.6), height 89.6cm (SD-1.4), OFC 48.0cm (SD-0.9); 18m-sit; 30m-walk; 18m-first words; autistic traits, mannerisms and obsessions, anxiety; neonatal hypotonia; swallowing difficulties; no seizures; no cardiac anomalies Inheritance Isolated (sporadic) Age/Examination 10.9y 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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