Global Variome shared LOVD

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Phenotype #0000350105 Individual ID 00464044 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite OCNDS Phenotype details see paper; ..., dysmorphism, developmental delay, multisystem involvement; mild developmental language delay, hyperlaxity joints, dysmorphic facial features, low set hairline, widow’s peak, thick eyebrows, unilateral partial ptosis, thick lips, wide opened mouth, relatively thick fingers 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 2025-02-14 18:11:27 +01:00 (CET) Date last edited N/A

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