Global Variome shared LOVD

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Phenotype #0000270210 Individual ID 00375000 Associated disease VERBRAS Diagnosis/Initial Ververi-Brady syndrome Diagnosis/Definite VERBRAS Phenotype details see paper; ..., birth 40w, weight 2.8 kg (2nd-9th centile); height 157cm (25th), weight 40.3kg (2nd-9th), OFC 55.5cm (50th-75th); bilateral ptosis, mild hypertelorism, prominent nose, thin upper lip, wide mouth; moderate developmental delay/intellectual disability; walk-24m; speech first words 24m; no autism; 2y-raised CK 440 U/L Inheritance Isolated (sporadic) Age/Examination 14y06m (14 years, 6 months) 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 2021-05-28 08:52:27 +02:00 (CEST) Date last edited N/A

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