Global Variome shared LOVD

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Phenotype #0000350507 Individual ID 00464472 Associated disease OGS Phenotype details see paper; ..., birth weight 4300g (1.5SD), length 57cm (3SD), OFC 38.5cm (2.6SD); poor neonatal feeding; hypospadias meatus at glandular-shaft junction; 9m-delayed developmental milestones, poor head control, limited interaction; 3m-height 66cm (2.3SD), OFC 45.7cm (3.6SD), weight 7.65kg (1.8SD); telecanthus, long palpebral fissures, pencilled eyebrows, broad, high forehead, plagiocephaly, deep palma/plantar creases; intellectual disability Diagnosis/Initial overgrowth Inheritance Isolated (sporadic) Diagnosis/Definite HJS1 Age/Examination 00y03m (3 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 N/A

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