Global Variome shared LOVD

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Phenotype #0000352888 Individual ID 00467736 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., global developmental delay; 12m-walk; 12-15m-first words regression; na; autism spectrum disorder; attention-deficit/hyperactivity disorder, spleep disturbance; no seizures; MRI brain normal; tall forehead with a high anterior hairline and deep set eyes; normal extremities; no postnatal growth retardation; conductive hearing loss, bilateral lamellar cataract, bifid uvula, cervicobrachial dystonia causing tremor, undescended left testis Inheritance Isolated (sporadic) Age/Examination 8y (8 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 2025-10-29 10:02:21 +01:00 (CET) Date last edited N/A

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