Global Variome shared LOVD

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Phenotype #0000356351 Individual ID 00471544 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., mild global developmental dealy (HP:0001263); no gross motor delay (-HP:0002194); speech delay (HP:0000750); learning or intellectual disability (HP:0001249); abnormal social behaviour (HP:0012433); no autistic behaviour (-HP:0000729), no ADHD; dysmorphic facial features (HP:0001999); 4y-stellate iris, thin upperlip, high palate; no congenital heart defect (-HP:0001627); no seizures (-HP:0001250) Inheritance Isolated (sporadic) Age/Examination 16y (16 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 2025-12-27 15:29:46 +01:00 (CET) Date last edited N/A

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