Global Variome shared LOVD

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Phenotype #0000357156 Individual ID 00472353 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDDFAC Phenotype details see paper; ..., birth 37w, weight 3234 g; severe intellectual disability; dysmorphic facial features; severe developmental delay; microcephaly; no seizures; MRI brain thin corpus callosum; interrupted aortic arch, ventricular septal defect; hair depigmentation; 2y9m-expressive speech delay Inheritance Isolated (sporadic) Age/Examination 3y (3 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 2026-02-03 13:26:51 +01:00 (CET) Date last edited N/A

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