Global Variome shared LOVD

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Phenotype #0000270209 Individual ID 00374999 Associated disease VERBRAS Diagnosis/Initial Ververi-Brady syndrome Diagnosis/Definite VERBRAS Phenotype details see paper; ..., birth 40w, weight 3.8 kg (75th centile); height 122.7cm (9th-25th), weight 23.3kg (25th), OFCcm 51 (10th); flat malar region, prominent nose, smooth philtrum, wide mouth, thin upper lip, protruberant lower lip; mild developmental delay/intellectual disability; walk-14m; speech first words 24-30m; autism; no raised CK Inheritance Isolated (sporadic) Age/Examination 08y (8 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 2021-05-28 08:43:51 +02:00 (CEST) Date last edited N/A

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