Global Variome shared LOVD

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Phenotype #0000347577 Individual ID 00459499 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., OFC >97th; no short stature; mild intellectual disability; global developmental delay, probably autism spectre disorder; borderline autism spectrum disorder; epilepsy associated with fever or infection; no movement disorder; no genital anomalies; no cardiac anomalies; no dysmorphisms; Café au lait spots Inheritance Isolated (sporadic) Age/Examination 7.08y 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 2025-01-06 10:01:48 +01:00 (CET) Date last edited N/A

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