Global Variome shared LOVD

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Phenotype #0000304878 Individual ID 00412892 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details moderate Intellectual disability; speech simple verbal language; 13m-walk, delayed fine motor skills, coordination issues; no epilepsy; EEG normal; dystonia, catatonia; anxiety, anger tantrums, autism spectrum disorder; MRI brain normal; poor sleep; normal vision; no dysmorphic features; hypothyroidism polycystic ovarian syndrome; wieght 54kg, height 157.5cm Inheritance Isolated (sporadic) Age/Examination 21y (21 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 2022-07-06 11:59:56 +02:00 (CEST) Date last edited N/A

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