Global Variome shared LOVD

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Phenotype #0000350509 Individual ID 00464474 Associated disease OGS Phenotype details see paper; ..., birth at term, weight 3600g (0.4SD); hypotonia;delayed motor milestones, 15m-crawl, 2y-walk; 18m-OFC 52cm (3.4SD); 14y-height 173cm (2SD), OFC 60cm (3.8SD); mild intellectual disability; asymmetric resting tremor progressed to florid features of dopa responsive Parkinsonism Diagnosis/Initial overgrowth Inheritance Unknown Diagnosis/Definite HJS1 Age/Examination >20y (later than 20 years) 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 16:15:00 +01:00 (CET)

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