Global Variome shared LOVD

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Phenotype #0000350508 Individual ID 00464473 Associated disease OGS Phenotype details see paper; ..., birth-36w; 20m-macrocephaly (OFC 54.5cm, 3.8SD), heigh 79.5cm (-1.4SD), weight 12.85kg (1.2SD); moderate intellectual disability; no dysmorphism, broad, tall forehead Diagnosis/Initial overgrowth Inheritance Isolated (sporadic) Diagnosis/Definite HJS1 Age/Examination 00y20m (20 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-03-18 16:03:05 +01:00 (CET) Date last edited 2025-03-18 16:10:32 +01:00 (CET)

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