Global Variome shared LOVD

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Phenotype #0000356809 Individual ID 00472000 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., brith 34w; moderate global developmental delay; speech delay; MRI normal; global developmental delay; facial asymmetry, epicanthal folds, retrognathia; plagiocephaly, clinodactyly; unilateral kidney agenesis; coloboma; failure to thrive; hypertrichosis Inheritance Isolated (sporadic) Age/Examination 5y (5 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 2026-01-05 12:55:15 +01:00 (CET) Date last edited N/A

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