Global Variome shared LOVD

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Phenotype #0000350120 Individual ID 00464059 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ..., birth weight 3.81 (SD+0.8); 5.8y-weight 16.2kg (SD-1.5), height 102.7cm (SD-2.1), OFC 50.0cm (SD-0.5); 15m-sit; 49m-walk; 48m-first words; autistic traits, repetitive behaviors, verbal ticks, motor ticks; neonatal hypotonia; no swallowing difficulties; three febrile seizures; no cardiac anomalies; MRI brain normal; post-axial polydactyly Inheritance Isolated (sporadic) Age/Examination 7.3y 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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