Global Variome shared LOVD

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Phenotype #0000350103 Individual ID 00464042 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ..., birth weight 3486 g (50-75%), length 48.2 cm (25-50%), OFC normal; 13y_OFC 55 cm (75-90%); intellectual disability (IQ60); developmental delay; 10m-sit; 16m-walk; 2y-normal speech; hypotonia, attention deficit/hyperactivity disorder, sleep problems; MRI brain normal; no dysmorphic features; scoliosis (19 degrees); failure to thrive, G-tube, constipation; mild IgA deficiency; easy fatigability, inguinal hernia, carnitine deficiency Inheritance Isolated (sporadic) Age/Examination 13y (13 years) 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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