Global Variome shared LOVD

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Phenotype #0000350101 Individual ID 00464040 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ..., birth weight 2551 g (3-10%), length 44.5 cm (<3%); 4.5y-OFC 48 cm (12%); intellectual disability; developmental delay; 1y-sit; 2y-walk; 22m-speech 2 words, still impaired speech ability; past hypotonia volatile tantrums; MRI brain relative underdevelopment left operculum, some secondary enlargement Sylvian fissure; round face, epicanthal folds, slightly low set ears, cupped ears that protrude, high palate, thin upper lip, generous tongue that protrudes, thin hair, mild synophrys, arched eyebrows; wears leg braces for gait abnormality; failure to thrive, G-tube, severe gastroesophageal reflux disease. silent aspiration, pharyngeal dysphagia issues; hypogammaglobulinemia requiring intravenous immunoglobulin; polyhydramnios, laryngomalacia at birth, dry skin, labial adhesions, intermittent esotropia Inheritance Isolated (sporadic) Age/Examination 4.5y 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 17:50:49 +01:00 (CET) Date last edited N/A

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