Global Variome shared LOVD

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Phenotype #0000356892 Individual ID 00472083 Associated disease KABUK Diagnosis/Initial Kabuki syndrome Diagnosis/Definite KABUK1 Phenotype details see paper; ..., long palpebral fissures, short nasal septum, arching eyebrows; normal eye; normal mouth; no skeletal anomalies; normal hands; hearing loss, developmental delay; atrial septal defect; feeding difficulties; no urogenital anomalies; no short stature Inheritance Isolated (sporadic) Age/Examination 5y (5 years) Age/Diagnosis 1y 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 2026-01-07 11:45:49 +01:00 (CET) Date last edited N/A

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